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Entry
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- #400045 - 46,XX SEX REVERSAL 1; SRXX1
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- OMIM
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<p>
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<span class="h4">#400045</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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<a href="/clinicalSynopsis/400045"><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="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</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="#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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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=46,XX SEX REVERSAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2037&Typ=Pat" title="46,XX ovotesticular difference of sex development" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">46,XX ovotesticular differ… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=5546&Typ=Pat" title="46,XX testicular difference of sex development" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">46,XX testicular differenc… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1416/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7609" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/46xx-testicular-difference-of-sex-development" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=400045[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2138" title="46,XX ovotesticular difference of sex development" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">46,XX ovotesticular differ…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=393" title="46,XX testicular difference of sex development" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">46,XX testicular differenc…</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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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:0111761" 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/400045" 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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<div><a href="https://omia.org/OMIA002047/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111761" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</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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</span>
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</div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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> 1234907000<br />
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<strong>ORPHA:</strong> 2138, 393<br />
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<strong>DO:</strong> 0111761<br />
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">ICD+</a>
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</div>
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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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400045
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</span>
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</span>
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</div>
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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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46,XX SEX REVERSAL 1; SRXX1
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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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<div>
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<h4>
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<span class="mim-font">
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46,XX SEX REVERSAL, SRY-POSITIVE<br />
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XX MALE, SRY-POSITIVE<br />
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46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT<br />
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46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE
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</span>
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</h4>
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</div>
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<div>
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<br />
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<div>
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</p>
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<div>
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<span class="h3 mim-font">
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46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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OVOTESTICULAR DISORDER OF SEX DEVELOPMENT, INCLUDED<br />
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OVOTESTICULAR DSD, INCLUDED
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</span>
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</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover 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">
|
|
<a href="/geneMap/Y/13?start=-3&limit=10&highlight=13">
|
|
Yp11.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
46XX sex reversal 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/400045"> 400045 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SRY
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/480000"> 480000 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/400045" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tall stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248328003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248328003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241240</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Normal penis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300527005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300527005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0577250&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0577250</a>]</span><br /> -
|
|
Ambiguous genitalia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21321009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21321009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000062" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000062</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> External Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Enlarged clitoris <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80212005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80212005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N90.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N90.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/624.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">624.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span><br /> -
|
|
Urogenital sinus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50961009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50961009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231057</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">
|
|
|
|
- Low libido <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8357008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8357008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R68.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R68.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0046504" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0046504</a>]</span><br /> -
|
|
Small, soft testes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194321&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194321</a>]</span><br /> -
|
|
Azoospermia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/425558002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">425558002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48188009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48188009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N46.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N46.01</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N46.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N46.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/606.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">606.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004509</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000027</a>]</span><br /> -
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Ovotestis, unilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194322</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1017223006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1017223006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q56.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q56.0</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012861" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012861</a>]</span><br /> -
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Fibrous ovarian stroma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194323</a>]</span><br /> -
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Primordial ovarian follicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194324</a>]</span><br /> -
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Seminiferous tubules without germ cells, rete testis, or Leydig cells <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194325</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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<span class="h5 mim-font">
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<em> Internal Genitalia (Female) </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Bicornuate uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31401003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31401003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289637001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289637001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.34" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.34</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266387&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266387</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</a>]</span><br /> -
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Ovary and fallopian tube, unilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194326</a>]</span><br /> -
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Endometrioma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103678008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103678008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237116001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237116001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N80.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N80.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0269102&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0269102</a>, <a href="https://bioportal.bioontology.org/search?q=C1536148&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1536148</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>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> ENDOCRINE FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Low testosterone <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131078003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131078003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1295654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1295654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040171</a>]</span><br /> -
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Elevated follicle-stimulating hormone (FSH) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864571</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008232" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008232</a>]</span><br /> -
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Elevated luteinizing hormone (LH) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4229939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4229939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011969" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011969</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>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Phenotypic variability, with some patients presenting as 46,XX males and others as 46,XX true hermaphrodites<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>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by translocation of a segment of the Y chromosome containing the sex-determining region Y gene (SRY, <a href="/entry/480000">480000</a>) to the X chromosome<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 class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that 46,XX sex reversal and 46,XX true hermaphroditism are caused by translocation of a segment of the Y chromosome containing the SRY gene (<a href="/entry/480000">480000</a>; Yp11.3) to the X chromosome.</p>
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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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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (<a href="#13" class="mim-tip-reference" title="Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A. <strong>Consensus statement on management of intersex disorders.</strong> Pediatrics 118: e488-e500, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16882788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16882788</a>] [<a href="https://doi.org/10.1542/peds.2006-0738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16882788">Lee et al., 2006</a>). Sex-reversed 46,XX individuals can present as phenotypically normal males, as men with genital ambiguities, or as true hermaphrodites (<a href="#1" class="mim-tip-reference" title="Ahmad, A., Siddiqui, M. A., Goyal, A., Wangnoo, S. K. <strong>Is 46XX karyotype always a female?</strong> BMJ Case Rep. 2012: bcr2012006223, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22814614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22814614</a>] [<a href="https://doi.org/10.1136/bcr-2012-006223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22814614">Ahmad et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22814614+16882788" 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>46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively (<a href="#17" class="mim-tip-reference" title="van Niekerk, W. A., Retief, A. E. <strong>The gonads of human true hermaphrodites.</strong> Hum. Genet. 58: 117-122, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6895206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6895206</a>] [<a href="https://doi.org/10.1007/BF00284158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6895206">van Niekerk and Retief, 1981</a>). It is a genetically heterogeneous condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6895206" 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><strong><em>Genetic Heterogeneity of 46,XX Sex Reversal</em></strong></p><p>
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Another form of 46,XX sex reversal (SRXX2; <a href="/entry/278850">278850</a>) is caused by duplication or triplication in a regulatory region upstream of the SOX9 gene (<a href="/entry/608160">608160</a>) on chromosome 17q24. SRXX3 (<a href="/entry/300833">300833</a>) is caused by duplications or deletions in the SOX3 (<a href="/entry/313430">313430</a>) regulatory region on chromosome Xq26. SRXX4 (<a href="/entry/617480">617480</a>) is caused by mutation in the NR5A1 gene (<a href="/entry/184757">184757</a>) on chromosome 9q33. SRXX5 (<a href="/entry/618901">618901</a>) is caused by mutation in the NR2F2 gene (<a href="/entry/107773">107773</a>) on chromosome 15q26.</p>
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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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<a id="nomenclature" class="mim-anchor"></a>
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<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>As a result of discussions at the International Consensus Conference on Intersex, <a href="#13" class="mim-tip-reference" title="Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A. <strong>Consensus statement on management of intersex disorders.</strong> Pediatrics 118: e488-e500, 2006. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16882788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16882788</a>] [<a href="https://doi.org/10.1542/peds.2006-0738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16882788">Lee et al. (2006)</a> proposed the term 'disorder(s) of sex development' (DSD) to replace the previously used terms 'pseudohermaphroditism,' 'intersex,' and 'sex reversal.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16882788" 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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</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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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#17" class="mim-tip-reference" title="van Niekerk, W. A., Retief, A. E. <strong>The gonads of human true hermaphrodites.</strong> Hum. Genet. 58: 117-122, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6895206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6895206</a>] [<a href="https://doi.org/10.1007/BF00284158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6895206">Van Niekerk and Retief (1981)</a> found that the ovotestis was the most common gonad of the true hermaphrodite, found in 44.3% of 406 cases. The genotype of most affected individuals was 46,XX, but many had 46,XY (see <a href="/entry/400044">400044</a>) or a mosaic of 46,XX/46,XY. Of 106 cases, 60% were considered to have a male phenotype and 40% a female phenotype, which did not correlate with presence or absence of the Y chromosome, although the presence of a Y chromosome tended to be associated with a male phenotype. <a href="#12" class="mim-tip-reference" title="Krob, G., Braun, A., Kuhnle, U. <strong>True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.</strong> Europ. J. Pediat. 153: 2-10, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8313919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8313919</a>] [<a href="https://doi.org/10.1007/BF02000779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8313919">Krob et al. (1994)</a> determined that approximately 60% of affected individuals are 46,XX, 33% are mosaic 46,XX/46,XY, and 7% are 46,XY. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8313919+6895206" 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="Armendares, S., Salamanca, F., Cantu, J. M., Del Castillo, V., Nava, S., Dominguez, O., Cortes-Gallegos, V., Gallegos, A., Cervantes, C., Parra, A. <strong>Familial true hermaphroditism in three siblings: clinical, cytogenetic, histological and hormonal studies.</strong> Humangenetik 29: 99-109, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1236834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1236834</a>] [<a href="https://doi.org/10.1007/BF00430346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1236834">Armendares et al. (1975)</a> and <a href="#10" class="mim-tip-reference" title="Gallegos, A. J., Guizar, E., Armendares, S., Cortes-Gallegos, V., Cervantes, C., Bedolla, N., Parra, A. <strong>Familial true hermaphrodism in three siblings: plasma hormonal profile and in vitro steroid biosynthesis in gonadal structures.</strong> J. Clin. Endocr. 42: 653-660, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/131131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">131131</a>] [<a href="https://doi.org/10.1210/jcem-42-4-653" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="131131">Gallegos et al. (1976)</a> reported a family with 3 affected sibs. The proband had a male phenotype and gender role, bilateral scrotal ovotestes with palpable nodules, and absence of mullerian structures. The karyotype was 46,XX in peripheral blood lymphocytes and gonadal fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=131131+1236834" 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="#18" class="mim-tip-reference" title="Vorona, E., Zitzmann, M., Gromoll, J., Schuring, A. N., Nieschlag, E. <strong>Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.</strong> J. Clin. Endocr. Metab. 92: 3458-3465, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17579198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17579198</a>] [<a href="https://doi.org/10.1210/jc.2007-0447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17579198">Vorona et al. (2007)</a> compared the 46,XX male syndrome and the more frequent 47,XXY-Klinefelter syndrome in regard to clinical, hormonal, and epigenetic features. The 46,XX males were significantly smaller than Klinefelter patients or healthy men, resembling female controls in height and weight. The incidence of maldescended testes was significantly higher than that in Klinefelter patients and controls. Gynecomastia was more frequent in comparison with controls, whereas there was a nonsignificant trend in comparison with Klinefelter patients. All XX males were infertile and most were hypogonadal. The inactivation patterns of androgen receptor (AR; <a href="/entry/313700">313700</a>) alleles in XX males were significantly more skewed than in Klinefelter patients and women. Seven of 10 heterozygous XX male patients displayed an extreme skewing of more than 80% with no preference toward the shorter or longer AR allele. The length of the AR CAG repeat polymorphism was positively related to traits of hypogonadism. <a href="#18" class="mim-tip-reference" title="Vorona, E., Zitzmann, M., Gromoll, J., Schuring, A. N., Nieschlag, E. <strong>Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.</strong> J. Clin. Endocr. Metab. 92: 3458-3465, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17579198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17579198</a>] [<a href="https://doi.org/10.1210/jc.2007-0447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17579198">Vorona et al. (2007)</a> concluded that nonrandom X-chromosome inactivation ratios are common in XX males, possibly due to the translocated SRY gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17579198" 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="Aksglaede, L., Skakkebaek, N. E., Juul, A. <strong>Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes.</strong> J. Clin. Endocr. Metab. 93: 169-176, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17940117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17940117</a>] [<a href="https://doi.org/10.1210/jc.2007-1426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17940117">Aksglaede et al. (2008)</a> evaluated the role of abnormal chromosome constitution for longitudinal growth in relation to reproductive hormones, IGF1 (<a href="/entry/147440">147440</a>), and IGFBP3 (<a href="/entry/146732">146732</a>) in eighty-six 47,XXY males, fourteen 46,XX males, and nine 47,XYY. They found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX males were shorter than controls. These abnormal growth patterns were not reflected in circulating levels of IGF1 and IGFBP3. The boys with 46,XX and 47,XXY karyotypes developed hypogonadism in puberty, but androgen secretion in 47,XYY boys remained normal. <a href="#2" class="mim-tip-reference" title="Aksglaede, L., Skakkebaek, N. E., Juul, A. <strong>Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes.</strong> J. Clin. Endocr. Metab. 93: 169-176, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17940117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17940117</a>] [<a href="https://doi.org/10.1210/jc.2007-1426" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17940117">Aksglaede et al. (2008)</a> suggested that the abnormal stature of these patients may be a result of abnormal gene expression due to the underlying chromosome aberration resulting in excessive expression of growth-related genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17940117" 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="#1" class="mim-tip-reference" title="Ahmad, A., Siddiqui, M. A., Goyal, A., Wangnoo, S. K. <strong>Is 46XX karyotype always a female?</strong> BMJ Case Rep. 2012: bcr2012006223, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22814614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22814614</a>] [<a href="https://doi.org/10.1136/bcr-2012-006223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22814614">Ahmad et al. (2012)</a> reported a 19-year-old 46,XX Middle Eastern man, born of consanguineous parents, who presented with bilateral gynecomastia, sparse facial hair, and low libido. He had normal axillary and pubic hair, and external genitalia were male, with normal penile length but small soft atrophic testes. Testosterone was low, whereas follicle-stimulating hormone (FSH; see <a href="/entry/136530">136530</a>) and luteinizing hormone (LH; see <a href="/entry/152780">152780</a>) were both markedly elevated. Pelvic MRI did not show any Mullerian structures, and the urinary system appeared normal. Semen analysis revealed azoospermia, with a normal-volume (3 mL) fructose-positive ejaculate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22814614" 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>Using a Y-specific DNA clone for in situ hybridization studies, <a href="#3" class="mim-tip-reference" title="Andersson, M., Page, D. C., de la Chapelle, A. <strong>Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males.</strong> Science 233: 786-788, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3738510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3738510</a>] [<a href="https://doi.org/10.1126/science.3738510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3738510">Andersson et al. (1986)</a> demonstrated transfer of Y-material to the end of Xp in 3 XX males. By study of XX males with translocation of material from Yp onto Xp, and by study of XY females with deletion of part of the short arm of the Y chromosome, <a href="#16" class="mim-tip-reference" title="Simpson, E., Chandler, P., Goulmy, E., Disteche, C. M., Ferguson-Smith, M. A., Page, D. C. <strong>Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome.</strong> Nature 326: 876-878, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3494951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3494951</a>] [<a href="https://doi.org/10.1038/326876a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3494951">Simpson et al. (1987)</a> were able to separate the genetic loci for the H-Y antigen (<a href="/entry/426000">426000</a>) and for testis-determining factor (TDF), or SRY. H-Y antigen maps to the centromeric region or the proximal part of the long arm of the Y chromosome, whereas SRY maps more distally on the short arm of the Y chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3738510+3494951" 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="#15" class="mim-tip-reference" title="Nieto, K., Pena, R., Palma, I., Dorantes, L. M., Erana, L., Alvarez, R., Garcia-Cavazos, R., Kofman-Alfaro, S., Queipo, G. <strong>45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.</strong> Am. J. Med. Genet. 130A: 311-314, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378545</a>] [<a href="https://doi.org/10.1002/ajmg.a.30258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378545">Nieto et al. (2004)</a> reported a 12-year-old phenotypic male who was evaluated for ambiguous genitalia, small phallus, labioscrotal folds, and a urogenital sinus. He had low levels of serum testosterone. Exploratory surgery demonstrated a right fallopian tube, hypoplastic uterus, a left ovary, and a right ovotestis. Conventional karyotype showed 46,XX, but DNA from peripheral blood leukocytes and ovotestis demonstrated a second cell line with presence of Ycen and Yqh and absence of all Yp sequences (delYp). FISH analysis confirmed absence of the SRY gene. Further analysis showed that most of the cells were 46,XX, but some cells were XX,delYp. In addition, there were 45,X and 47,XXX cell lines. <a href="#15" class="mim-tip-reference" title="Nieto, K., Pena, R., Palma, I., Dorantes, L. M., Erana, L., Alvarez, R., Garcia-Cavazos, R., Kofman-Alfaro, S., Queipo, G. <strong>45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.</strong> Am. J. Med. Genet. 130A: 311-314, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378545</a>] [<a href="https://doi.org/10.1002/ajmg.a.30258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378545">Nieto et al. (2004)</a> concluded that the different cell lines in this patient derived from early embryogenesis and that the phenotype could not be attributed to the SRY gene. They suggested that X polysomy may also be involved in gonadal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378545" 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>Approximately 10% of 46,XX true hermaphrodites have the SRY gene (<a href="#15" class="mim-tip-reference" title="Nieto, K., Pena, R., Palma, I., Dorantes, L. M., Erana, L., Alvarez, R., Garcia-Cavazos, R., Kofman-Alfaro, S., Queipo, G. <strong>45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.</strong> Am. J. Med. Genet. 130A: 311-314, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378545</a>] [<a href="https://doi.org/10.1002/ajmg.a.30258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15378545">Nieto et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378545" 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>The mechanism of masculinization in occasional persons with an apparently normal female chromosome complement (and a Klinefelter phenotype) had been thought to be due to reciprocal X-Y interchange at paternal meiosis (<a href="#8" class="mim-tip-reference" title="Ferguson-Smith, M. A. <strong>X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome.</strong> Lancet 288: 475-476, 1966. Note: Originally Volume II.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4161595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4161595</a>] [<a href="https://doi.org/10.1016/s0140-6736(66)92778-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4161595">Ferguson-Smith, 1966</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4161595" 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="#11" class="mim-tip-reference" title="Inoue, H., Nomura, M., Yanase, T., Ichino, I., Goto, K., Ikuyama, S., Takayanagi, R., Nawata, H. <strong>A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.</strong> Intern. Med. 37: 467-471, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9652903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9652903</a>] [<a href="https://doi.org/10.2169/internalmedicine.37.467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9652903">Inoue et al. (1998)</a> reported a 46,XX true hermaphrodite born with ambiguous genitalia who was found to have a testis on the right side and an ovotestis on the left side. No SRY was detected in DNA from peripheral blood leukocytes, but SRY was found in tissue from the ovotestis, indicating mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9652903" 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="#14" class="mim-tip-reference" title="Margarit, E., Coll, M. D., Oliva, R., Gomez, D., Soler, A., Ballesta, F. <strong>SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.</strong> Am. J. Med. Genet. 90: 25-28, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602113</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10602113">Margarit et al. (2000)</a> studied a 46,XX true hermaphrodite and found that Yp-specific sequences, including the SRY gene, had been transferred to the long arm of one of the X chromosomes at the Xq28 level. The derivative X chromosome of the patient lacked q-telomeric sequences. The authors suggested that this was the first report of a Yp/Xq translocation. The coexistence of testicular and ovarian tissue in the patient may have arisen by differential inactivation of the Y-bearing X chromosome, in which Xq telomeric sequences were missing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602113" 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 a 46,XX Middle Eastern man, <a href="#1" class="mim-tip-reference" title="Ahmad, A., Siddiqui, M. A., Goyal, A., Wangnoo, S. K. <strong>Is 46XX karyotype always a female?</strong> BMJ Case Rep. 2012: bcr2012006223, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22814614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22814614</a>] [<a href="https://doi.org/10.1136/bcr-2012-006223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22814614">Ahmad et al. (2012)</a> performed FISH analysis that indicated the presence of the SRY region on 1 of the X chromosomes, consistent with a diagnosis of 46,XX(SRY+). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22814614" 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 Finland, <a href="#5" class="mim-tip-reference" title="de la Chapelle, A., Koo, G. C., Wachtel, S. S. <strong>Recessive sex-determining genes in human XX male syndrome.</strong> Cell 15: 837-842, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/569552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">569552</a>] [<a href="https://doi.org/10.1016/0092-8674(78)90268-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="569552">de la Chapelle et al. (1978)</a> observed three XX males in one pedigree consistent with autosomal recessive inheritance. All three XX males and their mothers were found to have H-Y antigen (<a href="/entry/426000">426000</a>) and their fathers appeared to have excess H-Y antigen. The data were interpreted as indicating that the H-Y structural loci constitute a family of testis-determining genes and that either dominant or recessive modes of XX sex reversal can be produced by Y-autosome (or Y-X) translocations, depending upon the particular portion of H-Y genes transferred. Cytogenetic evidence of structural abnormality of Xp was presented by <a href="#7" class="mim-tip-reference" title="Evans, H. J., Buckton, K. E., Spowart, G., Carothers, A. D. <strong>Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange.</strong> Hum. Genet. 49: 11-31, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/572812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">572812</a>] [<a href="https://doi.org/10.1007/BF00277683" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="572812">Evans et al. (1979)</a> but could not be corroborated by <a href="#6" class="mim-tip-reference" title="de la Chapelle, A., Simola, K., Simola, P., Knuutila, S., Gahmberg, N., Pajunen, L., Lundqvist, C., Sarna, S., Murros, J. <strong>Heteromorphic X chromosomes in XX males?</strong> Hum. Genet. 52: 157-167, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/511171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">511171</a>] [<a href="https://doi.org/10.1007/BF00271568" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="511171">de la Chapelle et al. (1979)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=572812+511171+569552" 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="#9" class="mim-tip-reference" title="Fraccaro, M., Tiepolo, L., Zuffardi, O., Chiumello, G., DiNatale, B., Gargantini, L., Wolf, U. <strong>Familial XX true hermaphroditism and the H-Y antigen.</strong> Hum. Genet. 48: 45-52, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/110671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">110671</a>] [<a href="https://doi.org/10.1007/BF00273273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="110671">Fraccaro et al. (1979)</a> found H-Y positivity in 2 46,XX sibs, one of female and one of male gender but both with ambiguous external genitalia and ovotestis. The mother was H-Y negative. They assumed that the underlying mutation was transmitted by the father as an autosomal dominant. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=110671" 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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Ahmad, A., Siddiqui, M. A., Goyal, A., Wangnoo, S. K.
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<strong>Is 46XX karyotype always a female?</strong>
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BMJ Case Rep. 2012: bcr2012006223, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22814614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22814614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22814614" 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/bcr-2012-006223" target="_blank">Full Text</a>]
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Aksglaede, L., Skakkebaek, N. E., Juul, A.
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<strong>Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes.</strong>
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J. Clin. Endocr. Metab. 93: 169-176, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17940117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17940117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17940117" 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/jc.2007-1426" target="_blank">Full Text</a>]
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Andersson, M., Page, D. C., de la Chapelle, A.
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<strong>Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males.</strong>
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Science 233: 786-788, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3738510/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3738510</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3738510" 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/10.1126/science.3738510" target="_blank">Full Text</a>]
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Armendares, S., Salamanca, F., Cantu, J. M., Del Castillo, V., Nava, S., Dominguez, O., Cortes-Gallegos, V., Gallegos, A., Cervantes, C., Parra, A.
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<strong>Familial true hermaphroditism in three siblings: clinical, cytogenetic, histological and hormonal studies.</strong>
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Humangenetik 29: 99-109, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1236834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1236834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1236834" 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/10.1007/BF00430346" target="_blank">Full Text</a>]
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<a id="de la Chapelle1978" class="mim-anchor"></a>
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de la Chapelle, A., Koo, G. C., Wachtel, S. S.
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<strong>Recessive sex-determining genes in human XX male syndrome.</strong>
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Cell 15: 837-842, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/569552/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">569552</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=569552" 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/10.1016/0092-8674(78)90268-4" target="_blank">Full Text</a>]
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de la Chapelle, A., Simola, K., Simola, P., Knuutila, S., Gahmberg, N., Pajunen, L., Lundqvist, C., Sarna, S., Murros, J.
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<strong>Heteromorphic X chromosomes in XX males?</strong>
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Hum. Genet. 52: 157-167, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/511171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">511171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=511171" 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/10.1007/BF00271568" target="_blank">Full Text</a>]
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Evans, H. J., Buckton, K. E., Spowart, G., Carothers, A. D.
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<strong>Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange.</strong>
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Hum. Genet. 49: 11-31, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/572812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">572812</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=572812" 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/10.1007/BF00277683" target="_blank">Full Text</a>]
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Ferguson-Smith, M. A.
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<strong>X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome.</strong>
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Lancet 288: 475-476, 1966. Note: Originally Volume II.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4161595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4161595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4161595" 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/10.1016/s0140-6736(66)92778-4" target="_blank">Full Text</a>]
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Fraccaro, M., Tiepolo, L., Zuffardi, O., Chiumello, G., DiNatale, B., Gargantini, L., Wolf, U.
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<strong>Familial XX true hermaphroditism and the H-Y antigen.</strong>
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Hum. Genet. 48: 45-52, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/110671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">110671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=110671" 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/10.1007/BF00273273" target="_blank">Full Text</a>]
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Gallegos, A. J., Guizar, E., Armendares, S., Cortes-Gallegos, V., Cervantes, C., Bedolla, N., Parra, A.
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<strong>Familial true hermaphrodism in three siblings: plasma hormonal profile and in vitro steroid biosynthesis in gonadal structures.</strong>
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J. Clin. Endocr. 42: 653-660, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/131131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">131131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=131131" 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-42-4-653" target="_blank">Full Text</a>]
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Inoue, H., Nomura, M., Yanase, T., Ichino, I., Goto, K., Ikuyama, S., Takayanagi, R., Nawata, H.
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<strong>A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.</strong>
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Intern. Med. 37: 467-471, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9652903/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9652903</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9652903" 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/10.2169/internalmedicine.37.467" target="_blank">Full Text</a>]
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<a id="Krob1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Krob, G., Braun, A., Kuhnle, U.
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<strong>True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.</strong>
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Europ. J. Pediat. 153: 2-10, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8313919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8313919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8313919" 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/10.1007/BF02000779" 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="13" class="mim-anchor"></a>
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<a id="Lee2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A.
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<strong>Consensus statement on management of intersex disorders.</strong>
|
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Pediatrics 118: e488-e500, 2006. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16882788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16882788</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16882788" 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/10.1542/peds.2006-0738" 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="14" class="mim-anchor"></a>
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<a id="Margarit2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Margarit, E., Coll, M. D., Oliva, R., Gomez, D., Soler, A., Ballesta, F.
|
|
<strong>SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.</strong>
|
|
Am. J. Med. Genet. 90: 25-28, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602113</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602113" 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/10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5" 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="15" class="mim-anchor"></a>
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<a id="Nieto2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nieto, K., Pena, R., Palma, I., Dorantes, L. M., Erana, L., Alvarez, R., Garcia-Cavazos, R., Kofman-Alfaro, S., Queipo, G.
|
|
<strong>45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.</strong>
|
|
Am. J. Med. Genet. 130A: 311-314, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15378545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15378545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15378545" 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/10.1002/ajmg.a.30258" 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="16" class="mim-anchor"></a>
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<a id="Simpson1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Simpson, E., Chandler, P., Goulmy, E., Disteche, C. M., Ferguson-Smith, M. A., Page, D. C.
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<strong>Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome.</strong>
|
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Nature 326: 876-878, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3494951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3494951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3494951" 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/10.1038/326876a0" 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="17" class="mim-anchor"></a>
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<a id="van Niekerk1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Niekerk, W. A., Retief, A. E.
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<strong>The gonads of human true hermaphrodites.</strong>
|
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Hum. Genet. 58: 117-122, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6895206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6895206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6895206" 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/10.1007/BF00284158" 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="18" class="mim-anchor"></a>
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<a id="Vorona2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vorona, E., Zitzmann, M., Gromoll, J., Schuring, A. N., Nieschlag, E.
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<strong>Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.</strong>
|
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J. Clin. Endocr. Metab. 92: 3458-3465, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17579198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17579198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17579198" 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/jc.2007-0447" target="_blank">Full Text</a>]
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</p>
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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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<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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Marla J. F. O'Neill - updated : 05/23/2019
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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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Carol A. Bocchini : 8/18/2009
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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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alopez : 06/01/2020
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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 : 05/24/2019<br>alopez : 05/23/2019<br>alopez : 08/03/2016<br>alopez : 10/29/2014<br>joanna : 1/4/2013<br>alopez : 2/28/2011<br>joanna : 2/25/2011<br>wwang : 2/25/2011<br>carol : 8/20/2009<br>carol : 8/18/2009
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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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<h3>
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<span class="mim-font">
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<strong>#</strong> 400045
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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46,XX SEX REVERSAL 1; SRXX1
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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>
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<span class="mim-font">
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46,XX SEX REVERSAL, SRY-POSITIVE<br />
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XX MALE, SRY-POSITIVE<br />
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46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT<br />
|
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46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE
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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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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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OVOTESTICULAR DISORDER OF SEX DEVELOPMENT, INCLUDED<br />
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OVOTESTICULAR DSD, INCLUDED
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</span>
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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> 1234907000;
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<strong>ORPHA:</strong> 2138, 393;
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<strong>DO:</strong> 0111761;
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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>
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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 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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</th>
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</tr>
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</thead>
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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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Yp11.2
|
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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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46XX sex reversal 1
|
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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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400045
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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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X-linked dominant
|
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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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4
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
SRY
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
480000
|
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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>
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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>
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<span class="mim-font">
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<strong>TEXT</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>A number sign (#) is used with this entry because of evidence that 46,XX sex reversal and 46,XX true hermaphroditism are caused by translocation of a segment of the Y chromosome containing the SRY gene (480000; Yp11.3) to the X chromosome.</p>
|
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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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<h4>
|
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<span class="mim-font">
|
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<strong>Description</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>A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (Lee et al., 2006). Sex-reversed 46,XX individuals can present as phenotypically normal males, as men with genital ambiguities, or as true hermaphrodites (Ahmad et al., 2012). </p><p>46,XX male sex reversal is a condition in which a phenotypically normal male has a female genotype. A 'true hermaphrodite' must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively (van Niekerk and Retief, 1981). It is a genetically heterogeneous condition. </p><p><strong><em>Genetic Heterogeneity of 46,XX Sex Reversal</em></strong></p><p>
|
|
Another form of 46,XX sex reversal (SRXX2; 278850) is caused by duplication or triplication in a regulatory region upstream of the SOX9 gene (608160) on chromosome 17q24. SRXX3 (300833) is caused by duplications or deletions in the SOX3 (313430) regulatory region on chromosome Xq26. SRXX4 (617480) is caused by mutation in the NR5A1 gene (184757) on chromosome 9q33. SRXX5 (618901) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26.</p>
|
|
</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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>As a result of discussions at the International Consensus Conference on Intersex, Lee et al. (2006) proposed the term 'disorder(s) of sex development' (DSD) to replace the previously used terms 'pseudohermaphroditism,' 'intersex,' and 'sex reversal.' </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</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>Van Niekerk and Retief (1981) found that the ovotestis was the most common gonad of the true hermaphrodite, found in 44.3% of 406 cases. The genotype of most affected individuals was 46,XX, but many had 46,XY (see 400044) or a mosaic of 46,XX/46,XY. Of 106 cases, 60% were considered to have a male phenotype and 40% a female phenotype, which did not correlate with presence or absence of the Y chromosome, although the presence of a Y chromosome tended to be associated with a male phenotype. Krob et al. (1994) determined that approximately 60% of affected individuals are 46,XX, 33% are mosaic 46,XX/46,XY, and 7% are 46,XY. </p><p>Armendares et al. (1975) and Gallegos et al. (1976) reported a family with 3 affected sibs. The proband had a male phenotype and gender role, bilateral scrotal ovotestes with palpable nodules, and absence of mullerian structures. The karyotype was 46,XX in peripheral blood lymphocytes and gonadal fibroblasts. </p><p>Vorona et al. (2007) compared the 46,XX male syndrome and the more frequent 47,XXY-Klinefelter syndrome in regard to clinical, hormonal, and epigenetic features. The 46,XX males were significantly smaller than Klinefelter patients or healthy men, resembling female controls in height and weight. The incidence of maldescended testes was significantly higher than that in Klinefelter patients and controls. Gynecomastia was more frequent in comparison with controls, whereas there was a nonsignificant trend in comparison with Klinefelter patients. All XX males were infertile and most were hypogonadal. The inactivation patterns of androgen receptor (AR; 313700) alleles in XX males were significantly more skewed than in Klinefelter patients and women. Seven of 10 heterozygous XX male patients displayed an extreme skewing of more than 80% with no preference toward the shorter or longer AR allele. The length of the AR CAG repeat polymorphism was positively related to traits of hypogonadism. Vorona et al. (2007) concluded that nonrandom X-chromosome inactivation ratios are common in XX males, possibly due to the translocated SRY gene. </p><p>Aksglaede et al. (2008) evaluated the role of abnormal chromosome constitution for longitudinal growth in relation to reproductive hormones, IGF1 (147440), and IGFBP3 (146732) in eighty-six 47,XXY males, fourteen 46,XX males, and nine 47,XYY. They found accelerated growth in early childhood in boys with 47,XXY and 47,XYY karyotypes, whereas 46,XX males were shorter than controls. These abnormal growth patterns were not reflected in circulating levels of IGF1 and IGFBP3. The boys with 46,XX and 47,XXY karyotypes developed hypogonadism in puberty, but androgen secretion in 47,XYY boys remained normal. Aksglaede et al. (2008) suggested that the abnormal stature of these patients may be a result of abnormal gene expression due to the underlying chromosome aberration resulting in excessive expression of growth-related genes. </p><p>Ahmad et al. (2012) reported a 19-year-old 46,XX Middle Eastern man, born of consanguineous parents, who presented with bilateral gynecomastia, sparse facial hair, and low libido. He had normal axillary and pubic hair, and external genitalia were male, with normal penile length but small soft atrophic testes. Testosterone was low, whereas follicle-stimulating hormone (FSH; see 136530) and luteinizing hormone (LH; see 152780) were both markedly elevated. Pelvic MRI did not show any Mullerian structures, and the urinary system appeared normal. Semen analysis revealed azoospermia, with a normal-volume (3 mL) fructose-positive ejaculate. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</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>Using a Y-specific DNA clone for in situ hybridization studies, Andersson et al. (1986) demonstrated transfer of Y-material to the end of Xp in 3 XX males. By study of XX males with translocation of material from Yp onto Xp, and by study of XY females with deletion of part of the short arm of the Y chromosome, Simpson et al. (1987) were able to separate the genetic loci for the H-Y antigen (426000) and for testis-determining factor (TDF), or SRY. H-Y antigen maps to the centromeric region or the proximal part of the long arm of the Y chromosome, whereas SRY maps more distally on the short arm of the Y chromosome. </p>
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<strong>Cytogenetics</strong>
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<p>Nieto et al. (2004) reported a 12-year-old phenotypic male who was evaluated for ambiguous genitalia, small phallus, labioscrotal folds, and a urogenital sinus. He had low levels of serum testosterone. Exploratory surgery demonstrated a right fallopian tube, hypoplastic uterus, a left ovary, and a right ovotestis. Conventional karyotype showed 46,XX, but DNA from peripheral blood leukocytes and ovotestis demonstrated a second cell line with presence of Ycen and Yqh and absence of all Yp sequences (delYp). FISH analysis confirmed absence of the SRY gene. Further analysis showed that most of the cells were 46,XX, but some cells were XX,delYp. In addition, there were 45,X and 47,XXX cell lines. Nieto et al. (2004) concluded that the different cell lines in this patient derived from early embryogenesis and that the phenotype could not be attributed to the SRY gene. They suggested that X polysomy may also be involved in gonadal development. </p>
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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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<p>Approximately 10% of 46,XX true hermaphrodites have the SRY gene (Nieto et al., 2004). </p><p>The mechanism of masculinization in occasional persons with an apparently normal female chromosome complement (and a Klinefelter phenotype) had been thought to be due to reciprocal X-Y interchange at paternal meiosis (Ferguson-Smith, 1966). </p><p>Inoue et al. (1998) reported a 46,XX true hermaphrodite born with ambiguous genitalia who was found to have a testis on the right side and an ovotestis on the left side. No SRY was detected in DNA from peripheral blood leukocytes, but SRY was found in tissue from the ovotestis, indicating mosaicism. </p><p>Margarit et al. (2000) studied a 46,XX true hermaphrodite and found that Yp-specific sequences, including the SRY gene, had been transferred to the long arm of one of the X chromosomes at the Xq28 level. The derivative X chromosome of the patient lacked q-telomeric sequences. The authors suggested that this was the first report of a Yp/Xq translocation. The coexistence of testicular and ovarian tissue in the patient may have arisen by differential inactivation of the Y-bearing X chromosome, in which Xq telomeric sequences were missing. </p><p>In a 46,XX Middle Eastern man, Ahmad et al. (2012) performed FISH analysis that indicated the presence of the SRY region on 1 of the X chromosomes, consistent with a diagnosis of 46,XX(SRY+). </p>
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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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<p>In Finland, de la Chapelle et al. (1978) observed three XX males in one pedigree consistent with autosomal recessive inheritance. All three XX males and their mothers were found to have H-Y antigen (426000) and their fathers appeared to have excess H-Y antigen. The data were interpreted as indicating that the H-Y structural loci constitute a family of testis-determining genes and that either dominant or recessive modes of XX sex reversal can be produced by Y-autosome (or Y-X) translocations, depending upon the particular portion of H-Y genes transferred. Cytogenetic evidence of structural abnormality of Xp was presented by Evans et al. (1979) but could not be corroborated by de la Chapelle et al. (1979). </p><p>Fraccaro et al. (1979) found H-Y positivity in 2 46,XX sibs, one of female and one of male gender but both with ambiguous external genitalia and ovotestis. The mother was H-Y negative. They assumed that the underlying mutation was transmitted by the father as an autosomal dominant. </p>
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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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Ahmad, A., Siddiqui, M. A., Goyal, A., Wangnoo, S. K.
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<strong>Is 46XX karyotype always a female?</strong>
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BMJ Case Rep. 2012: bcr2012006223, 2012. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 22814614]
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|
|
|
|
|
[Full Text: https://doi.org/10.1136/bcr-2012-006223]
|
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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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Aksglaede, L., Skakkebaek, N. E., Juul, A.
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<strong>Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes.</strong>
|
|
J. Clin. Endocr. Metab. 93: 169-176, 2008.
|
|
|
|
|
|
[PubMed: 17940117]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jc.2007-1426]
|
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|
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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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Andersson, M., Page, D. C., de la Chapelle, A.
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<strong>Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males.</strong>
|
|
Science 233: 786-788, 1986.
|
|
|
|
|
|
[PubMed: 3738510]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.3738510]
|
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|
|
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</p>
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Armendares, S., Salamanca, F., Cantu, J. M., Del Castillo, V., Nava, S., Dominguez, O., Cortes-Gallegos, V., Gallegos, A., Cervantes, C., Parra, A.
|
|
<strong>Familial true hermaphroditism in three siblings: clinical, cytogenetic, histological and hormonal studies.</strong>
|
|
Humangenetik 29: 99-109, 1975.
|
|
|
|
|
|
[PubMed: 1236834]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00430346]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
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de la Chapelle, A., Koo, G. C., Wachtel, S. S.
|
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<strong>Recessive sex-determining genes in human XX male syndrome.</strong>
|
|
Cell 15: 837-842, 1978.
|
|
|
|
|
|
[PubMed: 569552]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(78)90268-4]
|
|
|
|
|
|
</p>
|
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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de la Chapelle, A., Simola, K., Simola, P., Knuutila, S., Gahmberg, N., Pajunen, L., Lundqvist, C., Sarna, S., Murros, J.
|
|
<strong>Heteromorphic X chromosomes in XX males?</strong>
|
|
Hum. Genet. 52: 157-167, 1979.
|
|
|
|
|
|
[PubMed: 511171]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00271568]
|
|
|
|
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|
</p>
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</li>
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|
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<li>
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<p class="mim-text-font">
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Evans, H. J., Buckton, K. E., Spowart, G., Carothers, A. D.
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<strong>Heteromorphic X chromosomes in 46,XX males: evidence for the involvement of X-Y interchange.</strong>
|
|
Hum. Genet. 49: 11-31, 1979.
|
|
|
|
|
|
[PubMed: 572812]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00277683]
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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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Ferguson-Smith, M. A.
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<strong>X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome.</strong>
|
|
Lancet 288: 475-476, 1966. Note: Originally Volume II.
|
|
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|
|
[PubMed: 4161595]
|
|
|
|
|
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[Full Text: https://doi.org/10.1016/s0140-6736(66)92778-4]
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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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Fraccaro, M., Tiepolo, L., Zuffardi, O., Chiumello, G., DiNatale, B., Gargantini, L., Wolf, U.
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<strong>Familial XX true hermaphroditism and the H-Y antigen.</strong>
|
|
Hum. Genet. 48: 45-52, 1979.
|
|
|
|
|
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[PubMed: 110671]
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[Full Text: https://doi.org/10.1007/BF00273273]
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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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Gallegos, A. J., Guizar, E., Armendares, S., Cortes-Gallegos, V., Cervantes, C., Bedolla, N., Parra, A.
|
|
<strong>Familial true hermaphrodism in three siblings: plasma hormonal profile and in vitro steroid biosynthesis in gonadal structures.</strong>
|
|
J. Clin. Endocr. 42: 653-660, 1976.
|
|
|
|
|
|
[PubMed: 131131]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem-42-4-653]
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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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Inoue, H., Nomura, M., Yanase, T., Ichino, I., Goto, K., Ikuyama, S., Takayanagi, R., Nawata, H.
|
|
<strong>A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.</strong>
|
|
Intern. Med. 37: 467-471, 1998.
|
|
|
|
|
|
[PubMed: 9652903]
|
|
|
|
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|
[Full Text: https://doi.org/10.2169/internalmedicine.37.467]
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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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|
Krob, G., Braun, A., Kuhnle, U.
|
|
<strong>True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.</strong>
|
|
Europ. J. Pediat. 153: 2-10, 1994.
|
|
|
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|
|
[PubMed: 8313919]
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|
[Full Text: https://doi.org/10.1007/BF02000779]
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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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Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A.
|
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<strong>Consensus statement on management of intersex disorders.</strong>
|
|
Pediatrics 118: e488-e500, 2006. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 16882788]
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[Full Text: https://doi.org/10.1542/peds.2006-0738]
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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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Margarit, E., Coll, M. D., Oliva, R., Gomez, D., Soler, A., Ballesta, F.
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<strong>SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.</strong>
|
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Am. J. Med. Genet. 90: 25-28, 2000.
|
|
|
|
|
|
[PubMed: 10602113]
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|
|
|
|
[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5]
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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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Nieto, K., Pena, R., Palma, I., Dorantes, L. M., Erana, L., Alvarez, R., Garcia-Cavazos, R., Kofman-Alfaro, S., Queipo, G.
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|
<strong>45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.</strong>
|
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Am. J. Med. Genet. 130A: 311-314, 2004.
|
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[PubMed: 15378545]
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[Full Text: https://doi.org/10.1002/ajmg.a.30258]
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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, E., Chandler, P., Goulmy, E., Disteche, C. M., Ferguson-Smith, M. A., Page, D. C.
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<strong>Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome.</strong>
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Nature 326: 876-878, 1987.
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[PubMed: 3494951]
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[Full Text: https://doi.org/10.1038/326876a0]
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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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van Niekerk, W. A., Retief, A. E.
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<strong>The gonads of human true hermaphrodites.</strong>
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Hum. Genet. 58: 117-122, 1981.
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[PubMed: 6895206]
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[Full Text: https://doi.org/10.1007/BF00284158]
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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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Vorona, E., Zitzmann, M., Gromoll, J., Schuring, A. N., Nieschlag, E.
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<strong>Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.</strong>
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J. Clin. Endocr. Metab. 92: 3458-3465, 2007.
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[PubMed: 17579198]
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[Full Text: https://doi.org/10.1210/jc.2007-0447]
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Marla J. F. O'Neill - updated : 05/23/2019
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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 : 8/18/2009
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Edit History:
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alopez : 06/01/2020<br>carol : 05/24/2019<br>alopez : 05/23/2019<br>alopez : 08/03/2016<br>alopez : 10/29/2014<br>joanna : 1/4/2013<br>alopez : 2/28/2011<br>joanna : 2/25/2011<br>wwang : 2/25/2011<br>carol : 8/20/2009<br>carol : 8/18/2009
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