3360 lines
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3360 lines
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Entry
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- #312300 - ANDROGEN INSENSITIVITY, PARTIAL; PAIS
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- OMIM
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<p>
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<span class="h4">#312300</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/312300"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(ANDROGEN INSENSITIVITY, PARTIAL) OR (AR)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12100&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=312300[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90797" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d60819f7-016d-4408-aa2e-3790ee6d8493/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080776" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/312300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 122811000119101<br />
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<strong>ICD10CM:</strong> E34.52<br />
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<strong>ICD9CM:</strong> 259.52<br />
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<strong>ORPHA:</strong> 90797<br />
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<strong>DO:</strong> 0080776<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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312300
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ANDROGEN INSENSITIVITY, PARTIAL; PAIS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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REIFENSTEIN SYNDROME<br />
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ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER<br />
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FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/X/378?start=-3&limit=10&highlight=378">
|
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Xq12
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Androgen insensitivity, partial, with or without breast cancer
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/312300"> 312300 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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AR
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/313700"> 313700 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/312300" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/312300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/312300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Gynecomastia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4754008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4754008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000771</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000771" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000771</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bifid scrotum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236780002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236780002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</a>]</span><br /> -
|
|
Micropenis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br /> -
|
|
Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Male pseudohermaphroditism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111332007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111332007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238395&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238395</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000037</a>]</span><br /> -
|
|
Hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48130008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48130008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020619</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span><br /> -
|
|
Absent vas deferens <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702610009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702610009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5286009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5286009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300506000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300506000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266444</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012873</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012873</a>]</span><br /> -
|
|
Testis biopsy shows Leydig cell hyperplasia, hyaline tubular ghosts, and mitotic germ cells but no spermatozoa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839404</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- High testosterone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030088" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030088</a>]</span><br /> -
|
|
Partial deficiency of cytoplasmic DHT-binding <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839402</a>]</span><br /> -
|
|
High FSH secondary to androgen insensitivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839403</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Normal 46,XY karyotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839405</a>]</span><br /> -
|
|
Oligospermia or azoospermia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839406</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Caused by mutation in the androgen receptor gene (AR, <a href="/entry/313700#0008">313700.0008</a>)<br />
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<p>A number sign (#) is used with this entry because partial androgen insensitivity (PAIS) is caused by mutation in the androgen receptor gene (AR; <a href="/entry/313700">313700</a>) on chromosome Xq12.</p>
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<p>Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by <a href="#19" class="mim-tip-reference" title="Mongan, N. P., Tadokoro-Cuccaro, R., Bunch, T., Hughes, I. A. <strong>Androgen insensitivity syndrome.</strong> Best Pract. Res. Clin. Endocr. Metab. 29: 569-580, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26303084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26303084</a>] [<a href="https://doi.org/10.1016/j.beem.2015.04.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26303084">Mongan et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26303084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#24" class="mim-tip-reference" title="Reifenstein, E. C., Jr. <strong>Hereditary familial hypogonadism. (Abstract)</strong> Proc. Am. Fed. Clin. Res. 3: 86 only, 1946."None>Reifenstein (1946)</a> reported a family in which 9 of 10 male members over 2 generations exhibited abnormally high follicle-stimulating hormone secretion, hypospadias, sterility, gynecomastia, small testes, absent beard, height of 65 +/- inches, normal sized phallus, normal 17-ketosteroid excretion, late puberty, and normal libido. The syndrome appeared to be transmitted by females. In an article by <a href="#21" class="mim-tip-reference" title="Nelson, W. O., Heller, C. G. <strong>The testis in human hypogonadism. In: Pincus, G. (ed.): Recent Progress in Hormone Research.</strong> New York: Academic Press 1947. Pp. 224-225. Note: Comments by E. C. Reifenstein."None>Nelson and Heller (1947)</a>, Reifenstein commented further on this Syrian family.</p><p><a href="#23" class="mim-tip-reference" title="Peters, J. H., Sieber, W. K., Davis, N. <strong>Familial gynecomastia associated with genital abnormalities: report of a family.</strong> J. Clin. Endocr. 15: 182-198, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13233329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13233329</a>] [<a href="https://doi.org/10.1210/jcem-15-2-182" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13233329">Peters et al. (1955)</a> described gynecomastia, inguinal testes, and slight hypogonadal traits in 2 half brothers (sons of the same mother) and in a cousin, the son of the mother's sister. One affected male had intercourse and ejaculation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13233329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Boczkowski, K., Teter, J. <strong>Familial male pseudohermaphroditism.</strong> Acta Endocr. 49: 497-509, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14329824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14329824</a>] [<a href="https://doi.org/10.1530/acta.0.0490497" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14329824">Boczkowski and Teter (1965)</a> described 3 cases of incomplete testicular feminization among the children of 2 sisters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14329824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Wilson, J. D., Harrod, M. J., Goldstein, J. L., Hemsell, D. L., MacDonald, P. C. <strong>Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.</strong> New Eng. J. Med. 290: 1097-1103, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4821173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4821173</a>] [<a href="https://doi.org/10.1056/NEJM197405162902001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4821173">Wilson et al. (1974)</a> studied a family with 11 affected males. The phenotype in these varied from minimal changes (microphallus and bifid scrotum) in 2, to almost complete male pseudohermaphroditism (perineoscrotal hypospadias, absent vas deferens and vaginal orifice) in 1. On the basis of this and another reported pedigree, they suggested that the affected members in the kindred reported by <a href="#10" class="mim-tip-reference" title="Gilbert-Dreyfus, (NI), Savoie, (NI), Sebaoun, (NI), Alexandre, C., Belaisch, J. <strong>Etude d'un cas familial d'androgynoidisme avec hypospadias grave, gynecomastie et hyperoestrogenie.</strong> Ann. Endocr. 18: 93-101, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13444780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13444780</a>]" pmid="13444780">Gilbert-Dreyfus et al. (1957)</a>, <a href="#17" class="mim-tip-reference" title="Lubs, H. A., Jr., Vilar, O., Bergenstal, D. M. <strong>Familial male pseudohermaphroditism with labial testes and partial feminization: endocrine studies and genetic aspects.</strong> J. Clin. Endocr. 19: 1110-1120, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418653</a>] [<a href="https://doi.org/10.1210/jcem-19-9-1110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14418653">Lubs et al. (1959)</a> and <a href="#25" class="mim-tip-reference" title="Rosewater, S., Gwinup, G., Hamwi, G. J. <strong>Familial gynecomastia.</strong> Ann. Intern. Med. 63: 377-385, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14327504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14327504</a>] [<a href="https://doi.org/10.7326/0003-4819-63-3-377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14327504">Rosewater et al. (1965)</a> had the same condition as that reported by <a href="#24" class="mim-tip-reference" title="Reifenstein, E. C., Jr. <strong>Hereditary familial hypogonadism. (Abstract)</strong> Proc. Am. Fed. Clin. Res. 3: 86 only, 1946."None>Reifenstein (1946)</a>. <a href="#30" class="mim-tip-reference" title="Wilson, J. D., Harrod, M. J., Goldstein, J. L., Hemsell, D. L., MacDonald, P. C. <strong>Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.</strong> New Eng. J. Med. 290: 1097-1103, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4821173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4821173</a>] [<a href="https://doi.org/10.1056/NEJM197405162902001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4821173">Wilson et al. (1974)</a> chose to refer to the condition as type 1 familial incomplete male pseudohermaphroditism (type 2 is autosomal recessive; <a href="/entry/264600">264600</a>). From studies of blood levels of testosterone and luteinizing hormone and the rate of production of estrogen and androgen, they concluded that the underlying defect is in androgen action not androgen synthesis. <a href="#16" class="mim-tip-reference" title="Leonard, J. M., Bremner, W. J., Capell, P. T., Paulsen, C. A. <strong>Male hypogonadism: Klinefelter and Reifenstein syndromes. In: Bergsma, D.: Genetic Forms of Hypogonadism.</strong> New York: National Foundation-March of Dimes (pub.) 1975. Pp. 17-22."None>Leonard et al. (1975)</a> described a kindred with 8 affected persons in 4 sibships of 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4821173+14327504+13444780+14418653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>According to <a href="#31" class="mim-tip-reference" title="Wilson, J. D. <strong>Personal Communication.</strong> Dallas, Tex. 1976."None>Wilson (1976)</a>, <a href="#20" class="mim-tip-reference" title="Morris, J. M. <strong>The syndrome of testicular feminization in male pseudohermaphrodites.</strong> Am. J. Obstet. Gynec. 65: 1192-1211, 1953.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13057950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13057950</a>] [<a href="https://doi.org/10.1016/0002-9378(53)90359-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13057950">Morris (1953)</a> first described incomplete testicular feminization and concluded that the complete (AIS; <a href="/entry/300068">300068</a>) and incomplete forms never occur in the same family. The incomplete syndrome resembles the complete form in respect to female phenotype, bilateral testes and 46,XY karyotype, but differs by clitoral enlargement from birth and virilization at puberty. The abnormality of the external genitalia is characteristic; fusion of the labioscrotal folds occurs for about half of the dorsal portion. Although the degree of masculinization of the external genitalia is variable, most patients are raised as females. In the family described by <a href="#17" class="mim-tip-reference" title="Lubs, H. A., Jr., Vilar, O., Bergenstal, D. M. <strong>Familial male pseudohermaphroditism with labial testes and partial feminization: endocrine studies and genetic aspects.</strong> J. Clin. Endocr. 19: 1110-1120, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418653</a>] [<a href="https://doi.org/10.1210/jcem-19-9-1110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14418653">Lubs et al. (1959)</a>, some spermatogenesis was found. There is partial responsiveness to androgen (<a href="#32" class="mim-tip-reference" title="Winterborn, M. H., France, N. E., Raiti, S. <strong>Incomplete testicular feminization.</strong> Arch. Dis. Child. 45: 811-812, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5491888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5491888</a>] [<a href="https://doi.org/10.1136/adc.45.244.811" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5491888">Winterborn et al., 1970</a>) in this form of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13057950+5491888+14418653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Amrhein, J. A., Klingensmith, G. J., Walsh, P. C., McKusick, V. A., Migeon, C. J. <strong>Partial androgen insensitivity: the Reifenstein syndrome revisited.</strong> New Eng. J. Med. 297: 350-356, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/876326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">876326</a>] [<a href="https://doi.org/10.1056/NEJM197708182970703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="876326">Amrhein et al. (1977)</a> studied 8 patients and concluded that 'partial androgen insensitivity syndrome' is an appropriate designation. Studies of binding of dihydrotestosterone by fibroblasts showed 2 genetic variants (as in the complete androgen insensitivity syndrome, or testicular feminization). One patient had partial deficiency of cytoplasmic DHT-binding; 4 others had normal binding. <a href="#14" class="mim-tip-reference" title="Keenan, B. S., Kirkland, J. L., Kirkland, R. T., Clayton, G. W. <strong>Male pseudohermaphroditism with partial androgen insensitivity.</strong> Pediatrics 59: 224-231, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/834506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">834506</a>]" pmid="834506">Keenan et al. (1977)</a> also found 2 male sibs with normal binding. <a href="#1" class="mim-tip-reference" title="Aiman, J., Griffin, J. E., Gazak, J. M., Wilson, J. D., MacDonald, P. C. <strong>Androgen insensitivity as a cause of infertility in otherwise normal men.</strong> New Eng. J. Med. 300: 223-227, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/759869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">759869</a>] [<a href="https://doi.org/10.1056/NEJM197902013000503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="759869">Aiman et al. (1979)</a> presented evidence that androgen insensitivity can cause severe oligospermia or azoospermia. Plasma concentrations and production rates of testosterone were elevated. Specific high-affinity dihydrotestosterone binding capacity of cultured genital skin fibroblasts was low and in the same range as that of incomplete testicular feminization or Reifenstein syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=759869+876326+834506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Griffin, J. E., Wilson, J. D. <strong>The syndromes of androgen resistance.</strong> New Eng. J. Med. 302: 198-209, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6985704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6985704</a>] [<a href="https://doi.org/10.1056/NEJM198001243020404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6985704">Griffin and Wilson (1980)</a> gave a definitive review of androgen resistance. They pointed out that receptor deficiency may express itself simply as infertile men. In a family study of the Reifenstein syndrome, some men were noted to be infertile but otherwise phenotypically normal. They had the same degree of androgen resistance, as manifested by the plasma levels of testosterone and luteinizing hormone, and the same degree of receptor deficiency in cultured skin fibroblasts as did the more severely affected relatives (<a href="#30" class="mim-tip-reference" title="Wilson, J. D., Harrod, M. J., Goldstein, J. L., Hemsell, D. L., MacDonald, P. C. <strong>Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.</strong> New Eng. J. Med. 290: 1097-1103, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4821173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4821173</a>] [<a href="https://doi.org/10.1056/NEJM197405162902001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4821173">Wilson et al., 1974</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4821173+6985704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aiman, J., Griffin, J. E. <strong>The frequency of androgen resistance as a cause of infertility in men. (Abstract)</strong> 63rd Meeting of the Endocrine Society, June 1981."None>Aiman and Griffin (1981)</a> found that 8 of 18 phenotypically normal men with idiopathic azoospermia had an androgen receptor Bmax of less than 12 fmol DHT per mg protein. All cases of azoospermia of known cause (Klinefelter syndrome, vasectomy, undescended testes, etc.) had DHT Bmax values in excess of 12 fmol. The mean value for the product of plasma testosterone and plasma luteinizing hormone was 86.7 in patients with binding less than 12 fmol/mg and 195.2 in the subjects with binding more than 12, but the variance was so great that this index alone could not be used for suspecting the diagnosis. <a href="#3" class="mim-tip-reference" title="Aiman, J., Griffin, J. E. <strong>The frequency of androgen receptor deficiency in infertile men.</strong> J. Clin. Endocr. Metab. 54: 725-732, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6801070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6801070</a>] [<a href="https://doi.org/10.1210/jcem-54-4-725" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6801070">Aiman and Griffin (1982)</a> ascertained the frequency of this situation by studying 28 unrelated phenotypically normal men with idiopathic azoospermia or oligospermia. They concluded that 40% or more of these cases may have androgen resistance as the cause and that there may be no functional defect in the pituitary-testicular axis as reflected by abnormal serum concentrations of testosterone or LH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6801070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Boehmer, A. L. M., Brinkmann, A. O., Bruggenwirth, H., Van Assendelft, C., Otten, B. J., Verleun-Mooijman, M. C. T., Niermeijer, M. F., Brunner, H. G., Rouwe, C. W., Waelkens, J. J., Oostdijk, W., Kleijer, W. J., Van Der Kwast, T. H., De Vroede, M. A., Drop, S. L. S. <strong>Genotype versus phenotype in families with androgen insensitivity syndrome.</strong> J. Clin. Endocr. Metab. 86: 4151-4160, 2001. Note: Erratum: J. Clin. Endocr. Metab. 87: 3109 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11549642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11549642</a>] [<a href="https://doi.org/10.1210/jcem.86.9.7825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11549642">Boehmer et al. (2001)</a> analyzed the genotype-phenotype relationship in AIS and the occurrence of possible causes of phenotypic variation in families with multiple affected cases. Of 49 index cases with possible AIS identified, 59% had affected relatives. A total of 17 families were studied, 7 families with CAIS (18 patients), 9 families with PAIS (24 patients), and 1 family with female prepubertal phenotypes (2 patients). No phenotypic variation was observed in families with CAIS. However, phenotypic variation was observed in 1 of 3 families with PAIS resulting in different sex of rearing and differences in requirement of reconstructive surgery. Intrafamilial phenotypic variation was observed for mutations R846H (<a href="/entry/313700#0040">313700.0040</a>) and M771I (<a href="/entry/313700#0039">313700.0039</a>). Patients with a functional complete defective AR had some pubic hair, Tanner stage P2, and vestigial wolffian duct derivatives despite absence of AR expression. Vaginal length was functional in most but not all CAIS patients. <a href="#7" class="mim-tip-reference" title="Boehmer, A. L. M., Brinkmann, A. O., Bruggenwirth, H., Van Assendelft, C., Otten, B. J., Verleun-Mooijman, M. C. T., Niermeijer, M. F., Brunner, H. G., Rouwe, C. W., Waelkens, J. J., Oostdijk, W., Kleijer, W. J., Van Der Kwast, T. H., De Vroede, M. A., Drop, S. L. S. <strong>Genotype versus phenotype in families with androgen insensitivity syndrome.</strong> J. Clin. Endocr. Metab. 86: 4151-4160, 2001. Note: Erratum: J. Clin. Endocr. Metab. 87: 3109 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11549642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11549642</a>] [<a href="https://doi.org/10.1210/jcem.86.9.7825" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11549642">Boehmer et al. (2001)</a> concluded that while phenotypic variation was absent in families with CAIS, distinct phenotypic variation was observed relatively frequent in families with partial AIS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11549642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated families, <a href="#15" class="mim-tip-reference" title="Klocker, H., Kaspar, F., Eberle, J., Uberreiter, S., Radmayr, C., Bartsch, G. <strong>Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.</strong> Am. J. Hum. Genet. 50: 1318-1327, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598912</a>]" pmid="1598912">Klocker et al. (1992)</a> demonstrated that Reifenstein syndrome was due to a mutation in the AR gene (<a href="/entry/313700#0011">313700.0011</a>). The 5 patients in the 2 families presented with perineoscrotal hypospadias and undescended testes. After puberty they showed small testes, no palpable prostate, micropenis, azoospermia, and gynecomastia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In brothers with penoscrotal hypospadias who developed infiltrating ductal cancers of the breast at ages 75 and 55 years, respectively, <a href="#33" class="mim-tip-reference" title="Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D. F., Ponder, B. A. J., Stratton, M. R. <strong>A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.</strong> Nature Genet. 2: 132-134, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303262</a>] [<a href="https://doi.org/10.1038/ng1092-132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1303262">Wooster et al. (1992)</a> identified a mutation in the AR gene (<a href="/entry/313700#0016">313700.0016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Miller, O. J. <strong>Developmental sex abnormalities. In: Penrose, L. S.: Recent Advances in Human Genetics.</strong> London: J. and A. Churchill 1961. Pp. 39-55."None>Miller (1961)</a> considered 'feminizing labial testes' of the type described by <a href="#17" class="mim-tip-reference" title="Lubs, H. A., Jr., Vilar, O., Bergenstal, D. M. <strong>Familial male pseudohermaphroditism with labial testes and partial feminization: endocrine studies and genetic aspects.</strong> J. Clin. Endocr. 19: 1110-1120, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418653</a>] [<a href="https://doi.org/10.1210/jcem-19-9-1110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14418653">Lubs et al. (1959)</a> to be a separate form of male pseudohermaphroditism. However, <a href="#29" class="mim-tip-reference" title="Wilson, J. D., Carlson, B. R., Weaver, D. D., Kovacs, W. J., Griffin, J. E. <strong>Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor.</strong> Clin. Genet. 26: 363-370, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6541981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6541981</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01072.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6541981">Wilson et al. (1984)</a> described well-studied cases that indicated that the Lubs syndrome (<a href="#17" class="mim-tip-reference" title="Lubs, H. A., Jr., Vilar, O., Bergenstal, D. M. <strong>Familial male pseudohermaphroditism with labial testes and partial feminization: endocrine studies and genetic aspects.</strong> J. Clin. Endocr. 19: 1110-1120, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418653</a>] [<a href="https://doi.org/10.1210/jcem-19-9-1110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14418653">Lubs et al., 1959</a>), like classic testicular feminization, is due to mutation in the androgen receptor. The patients were first cousins; their mothers were sisters. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6541981+14418653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the family described by <a href="#25" class="mim-tip-reference" title="Rosewater, S., Gwinup, G., Hamwi, G. J. <strong>Familial gynecomastia.</strong> Ann. Intern. Med. 63: 377-385, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14327504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14327504</a>] [<a href="https://doi.org/10.7326/0003-4819-63-3-377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14327504">Rosewater et al. (1965)</a>, gynecomastia with hypogonadism occurred in 4 males of 3 sibships in 2 generations connected through females in a pattern consistent with X-linked or autosomal dominant inheritance. None of those affected had hypospadias. <a href="#30" class="mim-tip-reference" title="Wilson, J. D., Harrod, M. J., Goldstein, J. L., Hemsell, D. L., MacDonald, P. C. <strong>Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.</strong> New Eng. J. Med. 290: 1097-1103, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4821173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4821173</a>] [<a href="https://doi.org/10.1056/NEJM197405162902001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4821173">Wilson et al. (1974)</a> suggested that the disorder described by <a href="#25" class="mim-tip-reference" title="Rosewater, S., Gwinup, G., Hamwi, G. J. <strong>Familial gynecomastia.</strong> Ann. Intern. Med. 63: 377-385, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14327504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14327504</a>] [<a href="https://doi.org/10.7326/0003-4819-63-3-377" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14327504">Rosewater et al. (1965)</a> was the mildest expression of what they termed incomplete male pseudohermaphroditism, type 1. On the other hand, <a href="#13" class="mim-tip-reference" title="Gwinup, G. <strong>Incomplete male pseudohermaphroditism. (Letter)</strong> New Eng. J. Med. 291: 308 only, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4407117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4407117</a>] [<a href="https://doi.org/10.1056/nejm197408082910615" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4407117">Gwinup (1974)</a> rebutted by pointing out that this interpretation is made unlikely by the low levels of luteinizing hormones, by decreased Leydig cells on testicular biopsy, and by rapid masculinization when testosterone was administered. Follow-up showed maintenance of masculinization with injections of 200 mg testosterone cypionate monthly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4821173+14327504+4407117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the family studied by <a href="#8" class="mim-tip-reference" title="Bowen, P., Lee, C. N. S., Migeon, C. J., Kaplan, N. M., Whalley, P. J., McKusick, V. A., Reifenstein, E. C. <strong>Hereditary male pseudohermaphroditism with hypogonadism, hypospadias and gynecomastia (Reifenstein's syndrome).</strong> Ann. Intern. Med. 62: 252-270, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14259209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14259209</a>] [<a href="https://doi.org/10.7326/0003-4819-62-2-252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14259209">Bowen et al. (1965)</a> and later by <a href="#30" class="mim-tip-reference" title="Wilson, J. D., Harrod, M. J., Goldstein, J. L., Hemsell, D. L., MacDonald, P. C. <strong>Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.</strong> New Eng. J. Med. 290: 1097-1103, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4821173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4821173</a>] [<a href="https://doi.org/10.1056/NEJM197405162902001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4821173">Wilson et al. (1974)</a>, <a href="#22" class="mim-tip-reference" title="Ott, J., Goldstein, J. L., Harrod, M. J. <strong>Linkage investigation of a large family with Reifenstein's syndrome.</strong> Clin. Genet. 7: 342-344, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/236106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">236106</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1975.tb00339.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="236106">Ott et al. (1975)</a> excluded close linkage with Xg and with 3 autosomal loci, P, K and MNS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4821173+236106+14259209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Biben1955" class="mim-tip-reference" title="Biben, R. L., Gordan, G. S. <strong>Familial hypogonadotropic eunuchoidism.</strong> J. Clin. Endocr. 15: 931-942, 1955.">Biben and Gordan (1955)</a>; <a href="#Bremner1974" class="mim-tip-reference" title="Bremner, W. J., Ott, J., Moore, J., Paulsen, C. A. <strong>Reifenstein's syndrome: investigation of linkage to X-chromosomal loci.</strong> Clin. Genet. 6: 216-220, 1974.">Bremner et al. (1974)</a>; <a href="#Goldstein1974" class="mim-tip-reference" title="Goldstein, J. L., Wilson, J. D. <strong>Hereditary disorders of sexual development in man. In: Motulsky, A. G.; Lenz, W.: Birth Defects.</strong> Amsterdam: Excerpta Medica (pub.) 1974. Pp. 165-173.">Goldstein and Wilson
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(1974)</a>; <a href="#Simpson1946" class="mim-tip-reference" title="Simpson, S. L. <strong>Two brothers, with infantilism or eunuchoidism.</strong> Proc. Roy. Soc. Med. 39: 512-513, 1946.">Simpson (1946)</a>; <a href="#Sohval1953" class="mim-tip-reference" title="Sohval, A. R., Soffer, L. J. <strong>Congenital familial testicular deficiency.</strong> Am. J. Ment. Defic. 14: 328-348, 1953.">Sohval and Soffer (1953)</a>; <a href="#Walker1970" class="mim-tip-reference" title="Walker, A. C., Stack, E. M., Horsfall, W. A. <strong>Familial male pseudohermaphroditism.</strong> Med. J. Aust. 1: 156-160, 1970.">Walker et al.
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(1970)</a>; <a href="#Young1937" class="mim-tip-reference" title="Young, H. H. <strong>Genital Abnormalities, Hermaphroditism and Related Adrenal Diseases.</strong> Baltimore: Williams and Wilkins (pub.) 1937. Pp. 405-409.">Young (1937)</a>
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New Eng. J. Med. 300: 223-227, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/759869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">759869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=759869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197902013000503" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Aiman1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aiman, J., Griffin, J. E.
|
|
<strong>The frequency of androgen resistance as a cause of infertility in men. (Abstract)</strong>
|
|
63rd Meeting of the Endocrine Society, June 1981.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Aiman1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aiman, J., Griffin, J. E.
|
|
<strong>The frequency of androgen receptor deficiency in infertile men.</strong>
|
|
J. Clin. Endocr. Metab. 54: 725-732, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6801070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6801070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6801070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem-54-4-725" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Amrhein1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Amrhein, J. A., Klingensmith, G. J., Walsh, P. C., McKusick, V. A., Migeon, C. J.
|
|
<strong>Partial androgen insensitivity: the Reifenstein syndrome revisited.</strong>
|
|
New Eng. J. Med. 297: 350-356, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/876326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">876326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=876326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197708182970703" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Biben1955" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Biben, R. L., Gordan, G. S.
|
|
<strong>Familial hypogonadotropic eunuchoidism.</strong>
|
|
J. Clin. Endocr. 15: 931-942, 1955.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13242646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13242646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13242646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem-15-8-931" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Boczkowski1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boczkowski, K., Teter, J.
|
|
<strong>Familial male pseudohermaphroditism.</strong>
|
|
Acta Endocr. 49: 497-509, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14329824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14329824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14329824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1530/acta.0.0490497" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Boehmer2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boehmer, A. L. M., Brinkmann, A. O., Bruggenwirth, H., Van Assendelft, C., Otten, B. J., Verleun-Mooijman, M. C. T., Niermeijer, M. F., Brunner, H. G., Rouwe, C. W., Waelkens, J. J., Oostdijk, W., Kleijer, W. J., Van Der Kwast, T. H., De Vroede, M. A., Drop, S. L. S.
|
|
<strong>Genotype versus phenotype in families with androgen insensitivity syndrome.</strong>
|
|
J. Clin. Endocr. Metab. 86: 4151-4160, 2001. Note: Erratum: J. Clin. Endocr. Metab. 87: 3109 only, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11549642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11549642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11549642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.86.9.7825" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Bowen1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bowen, P., Lee, C. N. S., Migeon, C. J., Kaplan, N. M., Whalley, P. J., McKusick, V. A., Reifenstein, E. C.
|
|
<strong>Hereditary male pseudohermaphroditism with hypogonadism, hypospadias and gynecomastia (Reifenstein's syndrome).</strong>
|
|
Ann. Intern. Med. 62: 252-270, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14259209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14259209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14259209" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-62-2-252" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Bremner1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bremner, W. J., Ott, J., Moore, J., Paulsen, C. A.
|
|
<strong>Reifenstein's syndrome: investigation of linkage to X-chromosomal loci.</strong>
|
|
Clin. Genet. 6: 216-220, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4547688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4547688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4547688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb00654.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Gilbert-Dreyfus1957" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gilbert-Dreyfus, (NI), Savoie, (NI), Sebaoun, (NI), Alexandre, C., Belaisch, J.
|
|
<strong>Etude d'un cas familial d'androgynoidisme avec hypospadias grave, gynecomastie et hyperoestrogenie.</strong>
|
|
Ann. Endocr. 18: 93-101, 1957.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13444780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13444780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13444780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Goldstein1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Goldstein, J. L., Wilson, J. D.
|
|
<strong>Hereditary disorders of sexual development in man. In: Motulsky, A. G.; Lenz, W.: Birth Defects.</strong>
|
|
Amsterdam: Excerpta Medica (pub.) 1974. Pp. 165-173.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Griffin1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Griffin, J. E., Wilson, J. D.
|
|
<strong>The syndromes of androgen resistance.</strong>
|
|
New Eng. J. Med. 302: 198-209, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6985704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6985704</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6985704" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM198001243020404" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Gwinup1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gwinup, G.
|
|
<strong>Incomplete male pseudohermaphroditism. (Letter)</strong>
|
|
New Eng. J. Med. 291: 308 only, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4407117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4407117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4407117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/nejm197408082910615" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Keenan1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Keenan, B. S., Kirkland, J. L., Kirkland, R. T., Clayton, G. W.
|
|
<strong>Male pseudohermaphroditism with partial androgen insensitivity.</strong>
|
|
Pediatrics 59: 224-231, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/834506/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">834506</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=834506" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Klocker1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Klocker, H., Kaspar, F., Eberle, J., Uberreiter, S., Radmayr, C., Bartsch, G.
|
|
<strong>Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.</strong>
|
|
Am. J. Hum. Genet. 50: 1318-1327, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1598912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Leonard1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leonard, J. M., Bremner, W. J., Capell, P. T., Paulsen, C. A.
|
|
<strong>Male hypogonadism: Klinefelter and Reifenstein syndromes. In: Bergsma, D.: Genetic Forms of Hypogonadism.</strong>
|
|
New York: National Foundation-March of Dimes (pub.) 1975. Pp. 17-22.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Lubs1959" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lubs, H. A., Jr., Vilar, O., Bergenstal, D. M.
|
|
<strong>Familial male pseudohermaphroditism with labial testes and partial feminization: endocrine studies and genetic aspects.</strong>
|
|
J. Clin. Endocr. 19: 1110-1120, 1959.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14418653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14418653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14418653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem-19-9-1110" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Miller1961" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Miller, O. J.
|
|
<strong>Developmental sex abnormalities. In: Penrose, L. S.: Recent Advances in Human Genetics.</strong>
|
|
London: J. and A. Churchill 1961. Pp. 39-55.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Mongan2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mongan, N. P., Tadokoro-Cuccaro, R., Bunch, T., Hughes, I. A.
|
|
<strong>Androgen insensitivity syndrome.</strong>
|
|
Best Pract. Res. Clin. Endocr. Metab. 29: 569-580, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26303084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26303084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26303084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.beem.2015.04.005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Morris1953" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Morris, J. M.
|
|
<strong>The syndrome of testicular feminization in male pseudohermaphrodites.</strong>
|
|
Am. J. Obstet. Gynec. 65: 1192-1211, 1953.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13057950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13057950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13057950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9378(53)90359-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Nelson1947" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nelson, W. O., Heller, C. G.
|
|
<strong>The testis in human hypogonadism. In: Pincus, G. (ed.): Recent Progress in Hormone Research.</strong>
|
|
New York: Academic Press 1947. Pp. 224-225. Note: Comments by E. C. Reifenstein.
|
|
|
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Ott1975" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Ott, J., Goldstein, J. L., Harrod, M. J.
|
|
<strong>Linkage investigation of a large family with Reifenstein's syndrome.</strong>
|
|
Clin. Genet. 7: 342-344, 1975.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/236106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">236106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=236106" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb00339.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Peters1955" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Peters, J. H., Sieber, W. K., Davis, N.
|
|
<strong>Familial gynecomastia associated with genital abnormalities: report of a family.</strong>
|
|
J. Clin. Endocr. 15: 182-198, 1955.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13233329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13233329</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13233329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jcem-15-2-182" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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|
<a id="Reifenstein1946" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reifenstein, E. C., Jr.
|
|
<strong>Hereditary familial hypogonadism. (Abstract)</strong>
|
|
Proc. Am. Fed. Clin. Res. 3: 86 only, 1946.
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</p>
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</div>
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</li>
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<li>
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<a id="25" class="mim-anchor"></a>
|
|
<a id="Rosewater1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosewater, S., Gwinup, G., Hamwi, G. J.
|
|
<strong>Familial gynecomastia.</strong>
|
|
Ann. Intern. Med. 63: 377-385, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14327504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14327504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14327504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.7326/0003-4819-63-3-377" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Simpson1946" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Simpson, S. L.
|
|
<strong>Two brothers, with infantilism or eunuchoidism.</strong>
|
|
Proc. Roy. Soc. Med. 39: 512-513, 1946.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20995333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20995333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20995333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Sohval1953" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sohval, A. R., Soffer, L. J.
|
|
<strong>Congenital familial testicular deficiency.</strong>
|
|
Am. J. Ment. Defic. 14: 328-348, 1953.
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</p>
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</div>
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</li>
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<li>
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<a id="28" class="mim-anchor"></a>
|
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<a id="Walker1970" class="mim-anchor"></a>
|
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<div class="">
|
|
<p class="mim-text-font">
|
|
Walker, A. C., Stack, E. M., Horsfall, W. A.
|
|
<strong>Familial male pseudohermaphroditism.</strong>
|
|
Med. J. Aust. 1: 156-160, 1970.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5434881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5434881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5434881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.5694/j.1326-5377.1970.tb77782.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="29" class="mim-anchor"></a>
|
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<a id="Wilson1984" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Wilson, J. D., Carlson, B. R., Weaver, D. D., Kovacs, W. J., Griffin, J. E.
|
|
<strong>Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor.</strong>
|
|
Clin. Genet. 26: 363-370, 1984.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6541981/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6541981</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6541981" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01072.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="30" class="mim-anchor"></a>
|
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<a id="Wilson1974" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Wilson, J. D., Harrod, M. J., Goldstein, J. L., Hemsell, D. L., MacDonald, P. C.
|
|
<strong>Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.</strong>
|
|
New Eng. J. Med. 290: 1097-1103, 1974.
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4821173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4821173</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4821173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197405162902001" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="31" class="mim-anchor"></a>
|
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<a id="Wilson1976" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Wilson, J. D.
|
|
<strong>Personal Communication.</strong>
|
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Dallas, Tex. 1976.
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</p>
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</div>
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</li>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Winterborn1970" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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Winterborn, M. H., France, N. E., Raiti, S.
|
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<strong>Incomplete testicular feminization.</strong>
|
|
Arch. Dis. Child. 45: 811-812, 1970.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5491888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5491888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5491888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/adc.45.244.811" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Wooster1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D. F., Ponder, B. A. J., Stratton, M. R.
|
|
<strong>A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.</strong>
|
|
Nature Genet. 2: 132-134, 1992.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1303262/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1303262</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1303262" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1038/ng1092-132" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Young1937" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
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Young, H. H.
|
|
<strong>Genital Abnormalities, Hermaphroditism and Related Adrenal Diseases.</strong>
|
|
Baltimore: Williams and Wilkins (pub.) 1937. Pp. 405-409.
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 11/24/2015
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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carol : 08/15/2017
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 08/10/2017<br>carol : 08/09/2017<br>carol : 08/08/2017<br>carol : 06/17/2016<br>carol : 11/24/2015<br>carol : 11/24/2015<br>carol : 12/15/2011<br>carol : 1/30/2009<br>carol : 8/22/2001<br>mark : 3/27/1997<br>mimadm : 2/28/1994<br>supermim : 3/17/1992<br>carol : 3/8/1992<br>carol : 2/22/1992<br>carol : 5/29/1990<br>supermim : 3/20/1990
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
|
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<span class="mim-font">
|
|
<strong>#</strong> 312300
|
|
</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<h3>
|
|
<span class="mim-font">
|
|
|
|
ANDROGEN INSENSITIVITY, PARTIAL; PAIS
|
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|
|
</span>
|
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</h3>
|
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</div>
|
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
REIFENSTEIN SYNDROME<br />
|
|
ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER<br />
|
|
FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1
|
|
</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
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|
|
|
<strong>SNOMEDCT:</strong> 122811000119101;
|
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|
|
<strong>ICD10CM:</strong> E34.52;
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|
|
<strong>ICD9CM:</strong> 259.52;
|
|
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|
|
<strong>ORPHA:</strong> 90797;
|
|
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|
|
<strong>DO:</strong> 0080776;
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</span>
|
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</p>
|
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Xq12
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Androgen insensitivity, partial, with or without breast cancer
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
312300
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
X-linked recessive
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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AR
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<td>
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<span class="mim-font">
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313700
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because partial androgen insensitivity (PAIS) is caused by mutation in the androgen receptor gene (AR; 313700) on chromosome Xq12.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Individuals with androgen insensitivity have a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. The phenotype in PAIS varies depending on residual androgen receptor function, ranging from severe undermasculinization presenting as female-like external genitalia to male-appearing genitalia. The typical presentation comprises micropenis, severe hypospadias, and bifid scrotum with or without cryptorchidism (summary by Mongan et al., 2015). </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Reifenstein (1946) reported a family in which 9 of 10 male members over 2 generations exhibited abnormally high follicle-stimulating hormone secretion, hypospadias, sterility, gynecomastia, small testes, absent beard, height of 65 +/- inches, normal sized phallus, normal 17-ketosteroid excretion, late puberty, and normal libido. The syndrome appeared to be transmitted by females. In an article by Nelson and Heller (1947), Reifenstein commented further on this Syrian family.</p><p>Peters et al. (1955) described gynecomastia, inguinal testes, and slight hypogonadal traits in 2 half brothers (sons of the same mother) and in a cousin, the son of the mother's sister. One affected male had intercourse and ejaculation. </p><p>Boczkowski and Teter (1965) described 3 cases of incomplete testicular feminization among the children of 2 sisters. </p><p>Wilson et al. (1974) studied a family with 11 affected males. The phenotype in these varied from minimal changes (microphallus and bifid scrotum) in 2, to almost complete male pseudohermaphroditism (perineoscrotal hypospadias, absent vas deferens and vaginal orifice) in 1. On the basis of this and another reported pedigree, they suggested that the affected members in the kindred reported by Gilbert-Dreyfus et al. (1957), Lubs et al. (1959) and Rosewater et al. (1965) had the same condition as that reported by Reifenstein (1946). Wilson et al. (1974) chose to refer to the condition as type 1 familial incomplete male pseudohermaphroditism (type 2 is autosomal recessive; 264600). From studies of blood levels of testosterone and luteinizing hormone and the rate of production of estrogen and androgen, they concluded that the underlying defect is in androgen action not androgen synthesis. Leonard et al. (1975) described a kindred with 8 affected persons in 4 sibships of 3 generations. </p><p>According to Wilson (1976), Morris (1953) first described incomplete testicular feminization and concluded that the complete (AIS; 300068) and incomplete forms never occur in the same family. The incomplete syndrome resembles the complete form in respect to female phenotype, bilateral testes and 46,XY karyotype, but differs by clitoral enlargement from birth and virilization at puberty. The abnormality of the external genitalia is characteristic; fusion of the labioscrotal folds occurs for about half of the dorsal portion. Although the degree of masculinization of the external genitalia is variable, most patients are raised as females. In the family described by Lubs et al. (1959), some spermatogenesis was found. There is partial responsiveness to androgen (Winterborn et al., 1970) in this form of the disorder. </p><p>Amrhein et al. (1977) studied 8 patients and concluded that 'partial androgen insensitivity syndrome' is an appropriate designation. Studies of binding of dihydrotestosterone by fibroblasts showed 2 genetic variants (as in the complete androgen insensitivity syndrome, or testicular feminization). One patient had partial deficiency of cytoplasmic DHT-binding; 4 others had normal binding. Keenan et al. (1977) also found 2 male sibs with normal binding. Aiman et al. (1979) presented evidence that androgen insensitivity can cause severe oligospermia or azoospermia. Plasma concentrations and production rates of testosterone were elevated. Specific high-affinity dihydrotestosterone binding capacity of cultured genital skin fibroblasts was low and in the same range as that of incomplete testicular feminization or Reifenstein syndrome. </p><p>Griffin and Wilson (1980) gave a definitive review of androgen resistance. They pointed out that receptor deficiency may express itself simply as infertile men. In a family study of the Reifenstein syndrome, some men were noted to be infertile but otherwise phenotypically normal. They had the same degree of androgen resistance, as manifested by the plasma levels of testosterone and luteinizing hormone, and the same degree of receptor deficiency in cultured skin fibroblasts as did the more severely affected relatives (Wilson et al., 1974). </p><p>Aiman and Griffin (1981) found that 8 of 18 phenotypically normal men with idiopathic azoospermia had an androgen receptor Bmax of less than 12 fmol DHT per mg protein. All cases of azoospermia of known cause (Klinefelter syndrome, vasectomy, undescended testes, etc.) had DHT Bmax values in excess of 12 fmol. The mean value for the product of plasma testosterone and plasma luteinizing hormone was 86.7 in patients with binding less than 12 fmol/mg and 195.2 in the subjects with binding more than 12, but the variance was so great that this index alone could not be used for suspecting the diagnosis. Aiman and Griffin (1982) ascertained the frequency of this situation by studying 28 unrelated phenotypically normal men with idiopathic azoospermia or oligospermia. They concluded that 40% or more of these cases may have androgen resistance as the cause and that there may be no functional defect in the pituitary-testicular axis as reflected by abnormal serum concentrations of testosterone or LH. </p><p>Boehmer et al. (2001) analyzed the genotype-phenotype relationship in AIS and the occurrence of possible causes of phenotypic variation in families with multiple affected cases. Of 49 index cases with possible AIS identified, 59% had affected relatives. A total of 17 families were studied, 7 families with CAIS (18 patients), 9 families with PAIS (24 patients), and 1 family with female prepubertal phenotypes (2 patients). No phenotypic variation was observed in families with CAIS. However, phenotypic variation was observed in 1 of 3 families with PAIS resulting in different sex of rearing and differences in requirement of reconstructive surgery. Intrafamilial phenotypic variation was observed for mutations R846H (313700.0040) and M771I (313700.0039). Patients with a functional complete defective AR had some pubic hair, Tanner stage P2, and vestigial wolffian duct derivatives despite absence of AR expression. Vaginal length was functional in most but not all CAIS patients. Boehmer et al. (2001) concluded that while phenotypic variation was absent in families with CAIS, distinct phenotypic variation was observed relatively frequent in families with partial AIS. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>In 2 unrelated families, Klocker et al. (1992) demonstrated that Reifenstein syndrome was due to a mutation in the AR gene (313700.0011). The 5 patients in the 2 families presented with perineoscrotal hypospadias and undescended testes. After puberty they showed small testes, no palpable prostate, micropenis, azoospermia, and gynecomastia. </p><p>In brothers with penoscrotal hypospadias who developed infiltrating ductal cancers of the breast at ages 75 and 55 years, respectively, Wooster et al. (1992) identified a mutation in the AR gene (313700.0016). </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Miller (1961) considered 'feminizing labial testes' of the type described by Lubs et al. (1959) to be a separate form of male pseudohermaphroditism. However, Wilson et al. (1984) described well-studied cases that indicated that the Lubs syndrome (Lubs et al., 1959), like classic testicular feminization, is due to mutation in the androgen receptor. The patients were first cousins; their mothers were sisters. </p><p>In the family described by Rosewater et al. (1965), gynecomastia with hypogonadism occurred in 4 males of 3 sibships in 2 generations connected through females in a pattern consistent with X-linked or autosomal dominant inheritance. None of those affected had hypospadias. Wilson et al. (1974) suggested that the disorder described by Rosewater et al. (1965) was the mildest expression of what they termed incomplete male pseudohermaphroditism, type 1. On the other hand, Gwinup (1974) rebutted by pointing out that this interpretation is made unlikely by the low levels of luteinizing hormones, by decreased Leydig cells on testicular biopsy, and by rapid masculinization when testosterone was administered. Follow-up showed maintenance of masculinization with injections of 200 mg testosterone cypionate monthly. </p><p>In the family studied by Bowen et al. (1965) and later by Wilson et al. (1974), Ott et al. (1975) excluded close linkage with Xg and with 3 autosomal loci, P, K and MNS. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Biben and Gordan (1955); Bremner et al. (1974); Goldstein and Wilson
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(1974); Simpson (1946); Sohval and Soffer (1953); Walker et al.
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(1970); Young (1937)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Aiman, J., Griffin, J. E., Gazak, J. M., Wilson, J. D., MacDonald, P. C.
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<strong>Androgen insensitivity as a cause of infertility in otherwise normal men.</strong>
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New Eng. J. Med. 300: 223-227, 1979.
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[PubMed: 759869]
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[Full Text: https://doi.org/10.1056/NEJM197902013000503]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Aiman, J., Griffin, J. E.
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<strong>The frequency of androgen resistance as a cause of infertility in men. (Abstract)</strong>
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63rd Meeting of the Endocrine Society, June 1981.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Aiman, J., Griffin, J. E.
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<strong>The frequency of androgen receptor deficiency in infertile men.</strong>
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J. Clin. Endocr. Metab. 54: 725-732, 1982.
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[PubMed: 6801070]
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[Full Text: https://doi.org/10.1210/jcem-54-4-725]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Amrhein, J. A., Klingensmith, G. J., Walsh, P. C., McKusick, V. A., Migeon, C. J.
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<strong>Partial androgen insensitivity: the Reifenstein syndrome revisited.</strong>
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New Eng. J. Med. 297: 350-356, 1977.
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[PubMed: 876326]
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[Full Text: https://doi.org/10.1056/NEJM197708182970703]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Biben, R. L., Gordan, G. S.
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<strong>Familial hypogonadotropic eunuchoidism.</strong>
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J. Clin. Endocr. 15: 931-942, 1955.
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[PubMed: 13242646]
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[Full Text: https://doi.org/10.1210/jcem-15-8-931]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Boczkowski, K., Teter, J.
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<strong>Familial male pseudohermaphroditism.</strong>
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Acta Endocr. 49: 497-509, 1965.
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[PubMed: 14329824]
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[Full Text: https://doi.org/10.1530/acta.0.0490497]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Boehmer, A. L. M., Brinkmann, A. O., Bruggenwirth, H., Van Assendelft, C., Otten, B. J., Verleun-Mooijman, M. C. T., Niermeijer, M. F., Brunner, H. G., Rouwe, C. W., Waelkens, J. J., Oostdijk, W., Kleijer, W. J., Van Der Kwast, T. H., De Vroede, M. A., Drop, S. L. S.
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<strong>Genotype versus phenotype in families with androgen insensitivity syndrome.</strong>
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J. Clin. Endocr. Metab. 86: 4151-4160, 2001. Note: Erratum: J. Clin. Endocr. Metab. 87: 3109 only, 2002.
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[PubMed: 11549642]
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[Full Text: https://doi.org/10.1210/jcem.86.9.7825]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bowen, P., Lee, C. N. S., Migeon, C. J., Kaplan, N. M., Whalley, P. J., McKusick, V. A., Reifenstein, E. C.
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<strong>Hereditary male pseudohermaphroditism with hypogonadism, hypospadias and gynecomastia (Reifenstein's syndrome).</strong>
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Ann. Intern. Med. 62: 252-270, 1965.
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[PubMed: 14259209]
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[Full Text: https://doi.org/10.7326/0003-4819-62-2-252]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bremner, W. J., Ott, J., Moore, J., Paulsen, C. A.
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<strong>Reifenstein's syndrome: investigation of linkage to X-chromosomal loci.</strong>
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Clin. Genet. 6: 216-220, 1974.
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[PubMed: 4547688]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb00654.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gilbert-Dreyfus, (NI), Savoie, (NI), Sebaoun, (NI), Alexandre, C., Belaisch, J.
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<strong>Etude d'un cas familial d'androgynoidisme avec hypospadias grave, gynecomastie et hyperoestrogenie.</strong>
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Ann. Endocr. 18: 93-101, 1957.
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[PubMed: 13444780]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Goldstein, J. L., Wilson, J. D.
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<strong>Hereditary disorders of sexual development in man. In: Motulsky, A. G.; Lenz, W.: Birth Defects.</strong>
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Amsterdam: Excerpta Medica (pub.) 1974. Pp. 165-173.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Griffin, J. E., Wilson, J. D.
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<strong>The syndromes of androgen resistance.</strong>
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New Eng. J. Med. 302: 198-209, 1980.
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[PubMed: 6985704]
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[Full Text: https://doi.org/10.1056/NEJM198001243020404]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Gwinup, G.
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<strong>Incomplete male pseudohermaphroditism. (Letter)</strong>
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New Eng. J. Med. 291: 308 only, 1974.
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[PubMed: 4407117]
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[Full Text: https://doi.org/10.1056/nejm197408082910615]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Keenan, B. S., Kirkland, J. L., Kirkland, R. T., Clayton, G. W.
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<strong>Male pseudohermaphroditism with partial androgen insensitivity.</strong>
|
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Pediatrics 59: 224-231, 1977.
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[PubMed: 834506]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Klocker, H., Kaspar, F., Eberle, J., Uberreiter, S., Radmayr, C., Bartsch, G.
|
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<strong>Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.</strong>
|
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Am. J. Hum. Genet. 50: 1318-1327, 1992.
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[PubMed: 1598912]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Leonard, J. M., Bremner, W. J., Capell, P. T., Paulsen, C. A.
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<strong>Male hypogonadism: Klinefelter and Reifenstein syndromes. In: Bergsma, D.: Genetic Forms of Hypogonadism.</strong>
|
|
New York: National Foundation-March of Dimes (pub.) 1975. Pp. 17-22.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lubs, H. A., Jr., Vilar, O., Bergenstal, D. M.
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<strong>Familial male pseudohermaphroditism with labial testes and partial feminization: endocrine studies and genetic aspects.</strong>
|
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J. Clin. Endocr. 19: 1110-1120, 1959.
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[PubMed: 14418653]
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[Full Text: https://doi.org/10.1210/jcem-19-9-1110]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Miller, O. J.
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<strong>Developmental sex abnormalities. In: Penrose, L. S.: Recent Advances in Human Genetics.</strong>
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London: J. and A. Churchill 1961. Pp. 39-55.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mongan, N. P., Tadokoro-Cuccaro, R., Bunch, T., Hughes, I. A.
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<strong>Androgen insensitivity syndrome.</strong>
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Best Pract. Res. Clin. Endocr. Metab. 29: 569-580, 2015.
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[PubMed: 26303084]
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[Full Text: https://doi.org/10.1016/j.beem.2015.04.005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Morris, J. M.
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<strong>The syndrome of testicular feminization in male pseudohermaphrodites.</strong>
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Am. J. Obstet. Gynec. 65: 1192-1211, 1953.
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[PubMed: 13057950]
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[Full Text: https://doi.org/10.1016/0002-9378(53)90359-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nelson, W. O., Heller, C. G.
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<strong>The testis in human hypogonadism. In: Pincus, G. (ed.): Recent Progress in Hormone Research.</strong>
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New York: Academic Press 1947. Pp. 224-225. Note: Comments by E. C. Reifenstein.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ott, J., Goldstein, J. L., Harrod, M. J.
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<strong>Linkage investigation of a large family with Reifenstein's syndrome.</strong>
|
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Clin. Genet. 7: 342-344, 1975.
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|
|
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[PubMed: 236106]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1975.tb00339.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Peters, J. H., Sieber, W. K., Davis, N.
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<strong>Familial gynecomastia associated with genital abnormalities: report of a family.</strong>
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J. Clin. Endocr. 15: 182-198, 1955.
|
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|
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[PubMed: 13233329]
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|
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[Full Text: https://doi.org/10.1210/jcem-15-2-182]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Reifenstein, E. C., Jr.
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<strong>Hereditary familial hypogonadism. (Abstract)</strong>
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Proc. Am. Fed. Clin. Res. 3: 86 only, 1946.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rosewater, S., Gwinup, G., Hamwi, G. J.
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<strong>Familial gynecomastia.</strong>
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Ann. Intern. Med. 63: 377-385, 1965.
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[PubMed: 14327504]
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[Full Text: https://doi.org/10.7326/0003-4819-63-3-377]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Simpson, S. L.
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<strong>Two brothers, with infantilism or eunuchoidism.</strong>
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Proc. Roy. Soc. Med. 39: 512-513, 1946.
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[PubMed: 20995333]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sohval, A. R., Soffer, L. J.
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<strong>Congenital familial testicular deficiency.</strong>
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Am. J. Ment. Defic. 14: 328-348, 1953.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Walker, A. C., Stack, E. M., Horsfall, W. A.
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<strong>Familial male pseudohermaphroditism.</strong>
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Med. J. Aust. 1: 156-160, 1970.
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[PubMed: 5434881]
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[Full Text: https://doi.org/10.5694/j.1326-5377.1970.tb77782.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wilson, J. D., Carlson, B. R., Weaver, D. D., Kovacs, W. J., Griffin, J. E.
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<strong>Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor.</strong>
|
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Clin. Genet. 26: 363-370, 1984.
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[PubMed: 6541981]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb01072.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wilson, J. D., Harrod, M. J., Goldstein, J. L., Hemsell, D. L., MacDonald, P. C.
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<strong>Familial incomplete male pseudohermaphroditism type 1: evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome.</strong>
|
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New Eng. J. Med. 290: 1097-1103, 1974.
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[PubMed: 4821173]
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[Full Text: https://doi.org/10.1056/NEJM197405162902001]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wilson, J. D.
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<strong>Personal Communication.</strong>
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Dallas, Tex. 1976.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Winterborn, M. H., France, N. E., Raiti, S.
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<strong>Incomplete testicular feminization.</strong>
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Arch. Dis. Child. 45: 811-812, 1970.
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[PubMed: 5491888]
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[Full Text: https://doi.org/10.1136/adc.45.244.811]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wooster, R., Mangion, J., Eeles, R., Smith, S., Dowsett, M., Averill, D., Barrett-Lee, P., Easton, D. F., Ponder, B. A. J., Stratton, M. R.
|
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<strong>A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.</strong>
|
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Nature Genet. 2: 132-134, 1992.
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[PubMed: 1303262]
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[Full Text: https://doi.org/10.1038/ng1092-132]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Young, H. H.
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<strong>Genital Abnormalities, Hermaphroditism and Related Adrenal Diseases.</strong>
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Baltimore: Williams and Wilkins (pub.) 1937. Pp. 405-409.
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</p>
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</li>
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Carol A. Bocchini - updated : 11/24/2015
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Victor A. McKusick : 6/4/1986
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