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<title>
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Entry
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- #616425 - 46,XY SEX REVERSAL 10; SRXY10
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- OMIM
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<span class="h4">#616425</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/616425"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS400044"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</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><a href="https://clinicaltrials.gov/search?cond=(46,XY SEX REVERSAL) OR (SOX9)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#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=1044&Typ=Pat" title="46,XY complete gonadal dysgenesis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">46,XY complete gonadal dys… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19642&Typ=Pat" title="46,XY partial gonadal dysgenesis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">46,XY partial gonadal dysg… </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=242" title="46,XY complete gonadal dysgenesis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">46,XY complete gonadal dys…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251510" title="46,XY partial gonadal dysgenesis" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">46,XY partial gonadal dysg…</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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>ORPHA:</strong> 242, 251510<br />
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<strong>DO:</strong> 0111775<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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616425
|
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</span>
|
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</span>
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</div>
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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,XY SEX REVERSAL 10; SRXY10
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
CHROMOSOME 17q24 DELETION SYNDROME
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
|
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</th>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/17/894?start=-3&limit=10&highlight=894">
|
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17q24.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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46XY sex reversal 10
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/616425"> 616425 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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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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SOX9
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/608160"> 608160 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/616425" 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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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|
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<a href="/phenotypicSeries/PS400044" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/616425" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/616425" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent thelarche <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227375</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">
|
|
|
|
- Ambiguous genitalia (in some patients) <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 /> -
|
|
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 /> -
|
|
Micropenis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br />
|
|
|
|
</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">
|
|
|
|
- Unambiguously female-appearing genitalia (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228810</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">
|
|
|
|
- Small testis (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276411001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276411001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241355</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008734</a>]</span><br /> -
|
|
Dysgenetic male gonads (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228809&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228809</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent menarche <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228808&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228808</a>]</span><br /> -
|
|
Vagina present (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289511006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289511006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566938&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566938</a>]</span><br /> -
|
|
Uterus present <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289619002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289619002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0567037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0567037</a>]</span><br /> -
|
|
Absent or rudimentary uterus (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675016</a>]</span><br /> -
|
|
Fallopian tube(s) present <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289832005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289832005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0567246&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0567246</a>]</span><br /> -
|
|
Streak ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70550008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70550008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q50.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q50.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266371</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010464" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010464</a>]</span><br /> -
|
|
Gonadoblastoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162858007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162858007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74751003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74751003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206661&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206661</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000150" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000150</a>]</span><br /> -
|
|
Dysgerminoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60718004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60718004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100621</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100621" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100621</a>]</span><br /> -
|
|
Yolk sac tumor, malignant (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74409009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74409009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404081005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404081005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014145</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- No skeletal abnormalities detected <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228803&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228803</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Elevated follicle-stimulating hormone (FSH) levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013507</a>]</span><br /> -
|
|
Elevated luteinizing hormone (LH) levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013508</a>]</span><br /> -
|
|
Low anti-Mullerian hormone (AMH) levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013510</a>]</span><br /> -
|
|
Testosterone level in normal male range <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228811</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEOPLASIA </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Gonadal germ cell tumors (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3899657&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3899657</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 46,XX carriers are unaffected<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SRY-box-9 gene (SOX9, <a href="/entry/608160#0018">608160.0018</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
46,XY sex reversal
|
|
- <a href="/phenotypicSeries/PS400044">PS400044</a>
|
|
- 12 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/179?start=-3&limit=10&highlight=179"> 5q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613762"> 46XY sex reversal 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613762"> 613762 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600982"> MAP3K1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600982"> 600982 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/473?start=-3&limit=10&highlight=473"> 8q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616067"> 46XY sex reversal 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616067"> 616067 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603693"> ZFPM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603693"> 603693 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/2?start=-3&limit=10&highlight=2"> 9p24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154230"> 46XY sex reversal 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Isolated cases">IC</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">
|
|
<a href="/entry/154230"> 154230 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154230"> DEL9p24.3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/154230"> 154230 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/489?start=-3&limit=10&highlight=489"> 9q33.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612965"> 46XY sex reversal 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612965"> 612965 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184757"> NR5A1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184757"> 184757 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/21?start=-3&limit=10&highlight=21"> 10p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614279"> 46XY sex reversal 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614279"> 614279 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600450"> AKR1C2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600450"> 600450 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/23?start=-3&limit=10&highlight=23"> 10p15.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614279"> {46XY sex reversal 8, modifier of} </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614279"> 614279 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600451"> AKR1C4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600451"> 600451 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/349?start=-3&limit=10&highlight=349"> 12q13.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/233420"> 46XY sex reversal 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/233420"> 233420 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605423"> DHH </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605423"> 605423 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/942?start=-3&limit=10&highlight=942"> 12q24.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/273250"> 46XY sex reversal 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/273250"> 273250 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617362"> DHX37 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617362"> 617362 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/894?start=-3&limit=10&highlight=894"> 17q24.3 </a>
|
|
|
|
</span>
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<p>A number sign (#) is used with this entry because of evidence that 46,XY sex reversal-10 (SRXY10) is caused by heterozygous deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SOX9 gene (<a href="/entry/608160">608160</a>) on chromosome 17q24.</p>
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<p>46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see <a href="/entry/163950">163950</a>) (summary by <a href="#5" class="mim-tip-reference" title="Mann, J. R., Corkery, J. J., Fisher, H. J. W., Cameron, A. H., Mayerova, A., Wolf, U., Kennaugh, A. A., Woolley, V. <strong>The X-linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.</strong> J. Med. Genet. 20: 264-270, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6620326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6620326</a>] [<a href="https://doi.org/10.1136/jmg.20.4.264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6620326">Mann et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6620326" 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>For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (<a href="/entry/400044">400044</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="German, J., Simpson, J. L., Chaganti, R. S. K. <strong>Genetically determined sex-reversal in 46,XY humans.</strong> Science 202: 53-56, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/567843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">567843</a>] [<a href="https://doi.org/10.1126/science.567843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="567843">German et al. (1978)</a> reported a family in which 2 sisters, a maternal aunt, and a female cousin were 46,XY phenotypic females who in adulthood were found to have gonadal streaks or gonadoblastoma. At birth and throughout childhood, each had appeared to be a normal girl, in whom axillary and pubic hair developed at puberty; breast development and menarche failed to occur but were inducible by hormone administration. Examination revealed unambiguously female genitalia, and each had a normally developed uterus and fallopian tubes of prepubertal size. Endocrine analysis in the 2 sisters showed greatly elevated levels of follicle-stimulating hormone (FSH; see <a href="/entry/136530">136530</a>) and luteinizing hormone (LH; see <a href="/entry/152780">152780</a>), with a plasma testosterone level of 0.028 ug/100 mL in 1 sister. Pelvic surgery was performed in all 4 patients between the ages of 19 years and 29 years. The 2 sisters had bilateral streak ovaries that were grossly and histologically similar to those seen in 45,X gonadal dysgenesis (Turner syndrome); their affected cousin had gonads resembling the streaks grossly, but histopathology revealed bilateral gonadoblastoma. Surgical records for the affected maternal aunt were unavailable, but a 'purplish, probably calcified abdominal tumor' was known to have been removed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=567843" 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="#5" class="mim-tip-reference" title="Mann, J. R., Corkery, J. J., Fisher, H. J. W., Cameron, A. H., Mayerova, A., Wolf, U., Kennaugh, A. A., Woolley, V. <strong>The X-linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.</strong> J. Med. Genet. 20: 264-270, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6620326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6620326</a>] [<a href="https://doi.org/10.1136/jmg.20.4.264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6620326">Mann et al. (1983)</a> described a family in which 3 sisters, a maternal aunt, and a cousin's child were 46,XY phenotypic females. All had gonadal germ cell tumors. The proband was evaluated at 13 years of age for short stature, at which time she was found to have a 46,XY chromosome constitution. She was of dull intelligence (reading age 10 years), with height and weight just below the 3rd centile, and had no breast development and only scant pubic hair. At 14.5 years of age, she developed a large pelvic mass; at laparotomy the unresectable tumor was biopsied, and histology showed a malignant yolk sac tumor with an epithelial appearance, some papillary areas, Schiller-Duval bodies, and much necrosis. After chemotherapy, subtotal excision was performed, histologic examination of which showed necrotic tumor with some viable areas consisting of yolk sac tumor and small areas of well-differentiated teratoma containing respiratory epithelium, plain muscle, and glial tissue. The patient underwent postoperative chemotherapy and radiotherapy, but she eventually refused further treatment and died of tumor recurrence within 2 years. Examination of all available family members revealed that both of the proband's younger sisters and a cousin's child also had 46,XY gonadal dysgenesis; their gonads were removed prophylactically and histologic examination showed gonadoblastoma, dysgerminoma, and/or dysgenesis in all tissue. A maternal aunt who had been treated for bilateral 'ovarian' dysgerminomas was also found to be 46,XY. Family history revealed 4 phenotypic females from previous generations who were said to have been infertile, but all were deceased and could not be evaluated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6620326" 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="Benko, S., Gordon, C. T., Mallet, D., Sreenivasan, R., Thauvin-Robinet, C., Brendehaug, A., Thomas, S., Bruland, O., David, M., Nicolino, M., Labalme, A., Sanlaville, D., and 12 others. <strong>Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.</strong> J. Med. Genet. 48: 825-830, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22051515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22051515</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22051515">Benko et al. (2011)</a> reported two 46,XY cousins (family DSD4) with gonadal dysgenesis. In the first patient, a severe disorder of sex development (DSD) was apparent at birth, with asymmetric external genitalia consisting of a urogenital sinus with a 2-cm phallus, right hemiscrotum with palpable gonad, and left labioscrotal fold with nonpalpable gonad. At day 45, hormonal data resembled that of classic minipuberty observed in normal 46,XY males, with normal LH, FSH, and serum testosterone concentrations. Anti-mullerian hormone (AMH; <a href="/entry/600957">600957</a>) was low, indicating testicular dysgenesis. As the decision was made to rear the neonate as a girl, feminizing genitoplasty and bilateral gonadectomy were performed at age 4 months. Microscopic examination revealed that the right gonad was a small testis with normal architecture and spermatogonia in seminiferous tubules, whereas the left gonad was a streak gonad associated with a fallopian tube and hemi-uterus. The proband's cousin, who had a normal external female phenotype, presented with dispersed pubic hair at age 8 years and was found to have elevated urinary FSH, which prompted karyotyping that showed the patient to be 46,XY. Ultrasonography revealed the presence of a uterus with 'ovaries.' Hormonal evaluation at age 9 years showed low AMH and high FSH, suggestive of gonadal dysgenesis. Bilateral gonadectomy was performed; the left gonad was compatible with an ovary, whereas the right gonad was a streak gonad with gonadoblastoma. The well-limited gonadoblastoma contained calcifications as well as 2 types of cells: germ cells expressing placental-like alkaline phosphatase and CD117 (KIT; <a href="/entry/164920">164920</a>), and sex cord cells expressing inhibin (INHA; <a href="/entry/147380">147380</a>) and WT1 (<a href="/entry/607102">607102</a>). Examination of the index cases and their parents excluded any bone or craniofacial abnormalities reminiscent of campomelic dysplasia (<a href="/entry/114290">114290</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22051515" 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 a cohort of patients with 46,XY DSD, including 29 with complete female phenotype and 118 with undermasculinized external genitalia, <a href="#1" class="mim-tip-reference" title="Benko, S., Gordon, C. T., Mallet, D., Sreenivasan, R., Thauvin-Robinet, C., Brendehaug, A., Thomas, S., Bruland, O., David, M., Nicolino, M., Labalme, A., Sanlaville, D., and 12 others. <strong>Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.</strong> J. Med. Genet. 48: 825-830, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22051515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22051515</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22051515">Benko et al. (2011)</a> used MLPA and quantitative PCR to screen for copy number variation (CNV) in the SOX9 (<a href="/entry/608160">608160</a>) proximal gene desert. They identified two 46,XY cousins, 1 with a normal external female phenotype and the other with severe ambiguous and asymmetric external genitalia; both were heterozygous for an approximately 240-kb deletion (<a href="/entry/608160#0018">608160.0018</a>) between 405 and 645 kb upstream of the SOX9 transcription start site. The affected cousins were negative for mutation in 6 known 46,XY DSD-associated genes. Their unaffected mothers were sisters and carried the same deletion, which was not found in the Database of Genomic Variants. <a href="#1" class="mim-tip-reference" title="Benko, S., Gordon, C. T., Mallet, D., Sreenivasan, R., Thauvin-Robinet, C., Brendehaug, A., Thomas, S., Bruland, O., David, M., Nicolino, M., Labalme, A., Sanlaville, D., and 12 others. <strong>Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.</strong> J. Med. Genet. 48: 825-830, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22051515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22051515</a>] [<a href="https://doi.org/10.1136/jmedgenet-2011-100255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22051515">Benko et al. (2011)</a> stated that the region of overlap between the deletion in this 46,XY DSD family and duplications in 3 other families with 46,XX DSD reveals a minimal noncoding 78-kb sex-determining region (RevSex) located in a gene desert approximately 517 to 595 kb upstream of the SOX9 promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22051515" 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>By performing CNV analysis in 100 patients with SRY-positive 46,XY nonsyndromic partial or complete gonadal dysgenesis, <a href="#4" class="mim-tip-reference" title="Kim, G.-J., Sock, E., Buchberger, A., Just, W., Denzer, F., Hoepffner, W., German, J., Cole, T., Mann, J., Seguin, J. H., Zipf, W., Costigan, C., and 17 others. <strong>Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.</strong> J. Med. Genet. 52: 240-247, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25604083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25604083</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25604083">Kim et al. (2015)</a> identified 4 unrelated individuals with heterozygous deletions upstream of the SOX9 gene, including a patient from the family originally reported by <a href="#2" class="mim-tip-reference" title="German, J., Simpson, J. L., Chaganti, R. S. K. <strong>Genetically determined sex-reversal in 46,XY humans.</strong> Science 202: 53-56, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/567843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">567843</a>] [<a href="https://doi.org/10.1126/science.567843" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="567843">German et al. (1978)</a> (<a href="/entry/608160#0019">608160.0019</a>) and a patient from the family studied by <a href="#5" class="mim-tip-reference" title="Mann, J. R., Corkery, J. J., Fisher, H. J. W., Cameron, A. H., Mayerova, A., Wolf, U., Kennaugh, A. A., Woolley, V. <strong>The X-linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.</strong> J. Med. Genet. 20: 264-270, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6620326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6620326</a>] [<a href="https://doi.org/10.1136/jmg.20.4.264" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6620326">Mann et al. (1983)</a> (<a href="/entry/608160#0020">608160.0020</a>). Both of the latter deletions segregated with disease in the respective families. Together, the 4 deletions defined a 32.5-kb interval, which <a href="#4" class="mim-tip-reference" title="Kim, G.-J., Sock, E., Buchberger, A., Just, W., Denzer, F., Hoepffner, W., German, J., Cole, T., Mann, J., Seguin, J. H., Zipf, W., Costigan, C., and 17 others. <strong>Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.</strong> J. Med. Genet. 52: 240-247, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25604083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25604083</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25604083">Kim et al. (2015)</a> designated XYSR for 'XY sex-reversal region,' noting that it overlapped with previously described SOX9 upstream deletions but not with the RevSex region. The authors also defined a distinct 68-kb XX sex-reversal region (XXSR) upstream of the SOX9 gene, based on 46,XX patients with duplications (see <a href="/entry/278850">278850</a>), which was largely identical to the RevSex region. <a href="#4" class="mim-tip-reference" title="Kim, G.-J., Sock, E., Buchberger, A., Just, W., Denzer, F., Hoepffner, W., German, J., Cole, T., Mann, J., Seguin, J. H., Zipf, W., Costigan, C., and 17 others. <strong>Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.</strong> J. Med. Genet. 52: 240-247, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25604083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25604083</a>] [<a href="https://doi.org/10.1136/jmedgenet-2014-102864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25604083">Kim et al. (2015)</a> stated that the XYSR and XXSR intervals do not overlap, being separated by 23 kb, and proposed that each harbors a differently-acting gonad-specific regulatory element. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6620326+25604083+567843" 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 in vivo high-throughput chromatin accessibility techniques, transgenic assays, and genome editing, <a href="#3" class="mim-tip-reference" title="Gonen, N., Futtner, C. R., Wood, S., Garcia-Moreno, S. A., Salamone, I. M., Samson, S. C., Sekido, R., Poulat, F., Maatouk, D. M., Lovell-Badge, R. <strong>Sex reversal following deletion of a single distal enhancer of Sox9.</strong> Science 360: 1469-1473, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29903884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29903884</a>] [<a href="https://doi.org/10.1126/science.aas9408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29903884">Gonen et al. (2018)</a> detected several novel gonadal regulatory elements in the 2-megabase gene desert upstream of Sox9. Although others are redundant, enhancer-13 (Enh13), a 557-basepair element located 565 kilobases 5-prime from the transcriptional start site, is essential to initiate mouse testis development; its deletion results in XY females with Sox9 transcript levels equivalent to those in XX gonads. <a href="#3" class="mim-tip-reference" title="Gonen, N., Futtner, C. R., Wood, S., Garcia-Moreno, S. A., Salamone, I. M., Samson, S. C., Sekido, R., Poulat, F., Maatouk, D. M., Lovell-Badge, R. <strong>Sex reversal following deletion of a single distal enhancer of Sox9.</strong> Science 360: 1469-1473, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29903884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29903884</a>] [<a href="https://doi.org/10.1126/science.aas9408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29903884">Gonen et al. (2018)</a> concluded that their data are consistent with the time-sensitive activity of SRY and indicate a strict order of enhancer usage. Enh13 is conserved and embedded within the 32.5-kilobase SR XY region, whose deletion in humans is associated with XY sex reversal, suggesting that it is also critical in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29903884" 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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Benko, S., Gordon, C. T., Mallet, D., Sreenivasan, R., Thauvin-Robinet, C., Brendehaug, A., Thomas, S., Bruland, O., David, M., Nicolino, M., Labalme, A., Sanlaville, D., and 12 others.
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<strong>Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.</strong>
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J. Med. Genet. 48: 825-830, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22051515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22051515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22051515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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German, J., Simpson, J. L., Chaganti, R. S. K.
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<strong>Genetically determined sex-reversal in 46,XY humans.</strong>
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Science 202: 53-56, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/567843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">567843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=567843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gonen, N., Futtner, C. R., Wood, S., Garcia-Moreno, S. A., Salamone, I. M., Samson, S. C., Sekido, R., Poulat, F., Maatouk, D. M., Lovell-Badge, R.
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<strong>Sex reversal following deletion of a single distal enhancer of Sox9.</strong>
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Science 360: 1469-1473, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29903884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29903884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29903884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kim, G.-J., Sock, E., Buchberger, A., Just, W., Denzer, F., Hoepffner, W., German, J., Cole, T., Mann, J., Seguin, J. H., Zipf, W., Costigan, C., and 17 others.
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<strong>Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.</strong>
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J. Med. Genet. 52: 240-247, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25604083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25604083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25604083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Mann, J. R., Corkery, J. J., Fisher, H. J. W., Cameron, A. H., Mayerova, A., Wolf, U., Kennaugh, A. A., Woolley, V.
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<strong>The X-linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.</strong>
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J. Med. Genet. 20: 264-270, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6620326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6620326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6620326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ada Hamosh - updated : 09/04/2018
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Marla J. F. O'Neill : 6/16/2015
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alopez : 09/04/2018<br>alopez : 07/13/2018<br>alopez : 06/22/2015<br>mcolton : 6/16/2015
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</th>
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<th>
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Phenotype
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<th>
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Phenotype <br /> MIM number
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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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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<td>
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<span class="mim-font">
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17q24.3
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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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46XY sex reversal 10
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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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616425
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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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Autosomal 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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3
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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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SOX9
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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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608160
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</span>
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</tbody>
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</table>
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<strong>TEXT</strong>
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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,XY sex reversal-10 (SRXY10) is caused by heterozygous deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SOX9 gene (608160) on chromosome 17q24.</p>
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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>46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983). </p><p>For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044).</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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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>German et al. (1978) reported a family in which 2 sisters, a maternal aunt, and a female cousin were 46,XY phenotypic females who in adulthood were found to have gonadal streaks or gonadoblastoma. At birth and throughout childhood, each had appeared to be a normal girl, in whom axillary and pubic hair developed at puberty; breast development and menarche failed to occur but were inducible by hormone administration. Examination revealed unambiguously female genitalia, and each had a normally developed uterus and fallopian tubes of prepubertal size. Endocrine analysis in the 2 sisters showed greatly elevated levels of follicle-stimulating hormone (FSH; see 136530) and luteinizing hormone (LH; see 152780), with a plasma testosterone level of 0.028 ug/100 mL in 1 sister. Pelvic surgery was performed in all 4 patients between the ages of 19 years and 29 years. The 2 sisters had bilateral streak ovaries that were grossly and histologically similar to those seen in 45,X gonadal dysgenesis (Turner syndrome); their affected cousin had gonads resembling the streaks grossly, but histopathology revealed bilateral gonadoblastoma. Surgical records for the affected maternal aunt were unavailable, but a 'purplish, probably calcified abdominal tumor' was known to have been removed. </p><p>Mann et al. (1983) described a family in which 3 sisters, a maternal aunt, and a cousin's child were 46,XY phenotypic females. All had gonadal germ cell tumors. The proband was evaluated at 13 years of age for short stature, at which time she was found to have a 46,XY chromosome constitution. She was of dull intelligence (reading age 10 years), with height and weight just below the 3rd centile, and had no breast development and only scant pubic hair. At 14.5 years of age, she developed a large pelvic mass; at laparotomy the unresectable tumor was biopsied, and histology showed a malignant yolk sac tumor with an epithelial appearance, some papillary areas, Schiller-Duval bodies, and much necrosis. After chemotherapy, subtotal excision was performed, histologic examination of which showed necrotic tumor with some viable areas consisting of yolk sac tumor and small areas of well-differentiated teratoma containing respiratory epithelium, plain muscle, and glial tissue. The patient underwent postoperative chemotherapy and radiotherapy, but she eventually refused further treatment and died of tumor recurrence within 2 years. Examination of all available family members revealed that both of the proband's younger sisters and a cousin's child also had 46,XY gonadal dysgenesis; their gonads were removed prophylactically and histologic examination showed gonadoblastoma, dysgerminoma, and/or dysgenesis in all tissue. A maternal aunt who had been treated for bilateral 'ovarian' dysgerminomas was also found to be 46,XY. Family history revealed 4 phenotypic females from previous generations who were said to have been infertile, but all were deceased and could not be evaluated. </p><p>Benko et al. (2011) reported two 46,XY cousins (family DSD4) with gonadal dysgenesis. In the first patient, a severe disorder of sex development (DSD) was apparent at birth, with asymmetric external genitalia consisting of a urogenital sinus with a 2-cm phallus, right hemiscrotum with palpable gonad, and left labioscrotal fold with nonpalpable gonad. At day 45, hormonal data resembled that of classic minipuberty observed in normal 46,XY males, with normal LH, FSH, and serum testosterone concentrations. Anti-mullerian hormone (AMH; 600957) was low, indicating testicular dysgenesis. As the decision was made to rear the neonate as a girl, feminizing genitoplasty and bilateral gonadectomy were performed at age 4 months. Microscopic examination revealed that the right gonad was a small testis with normal architecture and spermatogonia in seminiferous tubules, whereas the left gonad was a streak gonad associated with a fallopian tube and hemi-uterus. The proband's cousin, who had a normal external female phenotype, presented with dispersed pubic hair at age 8 years and was found to have elevated urinary FSH, which prompted karyotyping that showed the patient to be 46,XY. Ultrasonography revealed the presence of a uterus with 'ovaries.' Hormonal evaluation at age 9 years showed low AMH and high FSH, suggestive of gonadal dysgenesis. Bilateral gonadectomy was performed; the left gonad was compatible with an ovary, whereas the right gonad was a streak gonad with gonadoblastoma. The well-limited gonadoblastoma contained calcifications as well as 2 types of cells: germ cells expressing placental-like alkaline phosphatase and CD117 (KIT; 164920), and sex cord cells expressing inhibin (INHA; 147380) and WT1 (607102). Examination of the index cases and their parents excluded any bone or craniofacial abnormalities reminiscent of campomelic dysplasia (114290). </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>Molecular Genetics</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>In a cohort of patients with 46,XY DSD, including 29 with complete female phenotype and 118 with undermasculinized external genitalia, Benko et al. (2011) used MLPA and quantitative PCR to screen for copy number variation (CNV) in the SOX9 (608160) proximal gene desert. They identified two 46,XY cousins, 1 with a normal external female phenotype and the other with severe ambiguous and asymmetric external genitalia; both were heterozygous for an approximately 240-kb deletion (608160.0018) between 405 and 645 kb upstream of the SOX9 transcription start site. The affected cousins were negative for mutation in 6 known 46,XY DSD-associated genes. Their unaffected mothers were sisters and carried the same deletion, which was not found in the Database of Genomic Variants. Benko et al. (2011) stated that the region of overlap between the deletion in this 46,XY DSD family and duplications in 3 other families with 46,XX DSD reveals a minimal noncoding 78-kb sex-determining region (RevSex) located in a gene desert approximately 517 to 595 kb upstream of the SOX9 promoter. </p><p>By performing CNV analysis in 100 patients with SRY-positive 46,XY nonsyndromic partial or complete gonadal dysgenesis, Kim et al. (2015) identified 4 unrelated individuals with heterozygous deletions upstream of the SOX9 gene, including a patient from the family originally reported by German et al. (1978) (608160.0019) and a patient from the family studied by Mann et al. (1983) (608160.0020). Both of the latter deletions segregated with disease in the respective families. Together, the 4 deletions defined a 32.5-kb interval, which Kim et al. (2015) designated XYSR for 'XY sex-reversal region,' noting that it overlapped with previously described SOX9 upstream deletions but not with the RevSex region. The authors also defined a distinct 68-kb XX sex-reversal region (XXSR) upstream of the SOX9 gene, based on 46,XX patients with duplications (see 278850), which was largely identical to the RevSex region. Kim et al. (2015) stated that the XYSR and XXSR intervals do not overlap, being separated by 23 kb, and proposed that each harbors a differently-acting gonad-specific regulatory element. </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>Animal Model</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 in vivo high-throughput chromatin accessibility techniques, transgenic assays, and genome editing, Gonen et al. (2018) detected several novel gonadal regulatory elements in the 2-megabase gene desert upstream of Sox9. Although others are redundant, enhancer-13 (Enh13), a 557-basepair element located 565 kilobases 5-prime from the transcriptional start site, is essential to initiate mouse testis development; its deletion results in XY females with Sox9 transcript levels equivalent to those in XX gonads. Gonen et al. (2018) concluded that their data are consistent with the time-sensitive activity of SRY and indicate a strict order of enhancer usage. Enh13 is conserved and embedded within the 32.5-kilobase SR XY region, whose deletion in humans is associated with XY sex reversal, suggesting that it is also critical in humans. </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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<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">
|
|
Benko, S., Gordon, C. T., Mallet, D., Sreenivasan, R., Thauvin-Robinet, C., Brendehaug, A., Thomas, S., Bruland, O., David, M., Nicolino, M., Labalme, A., Sanlaville, D., and 12 others.
|
|
<strong>Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.</strong>
|
|
J. Med. Genet. 48: 825-830, 2011.
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[PubMed: 22051515]
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[Full Text: https://doi.org/10.1136/jmedgenet-2011-100255]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
German, J., Simpson, J. L., Chaganti, R. S. K.
|
|
<strong>Genetically determined sex-reversal in 46,XY humans.</strong>
|
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Science 202: 53-56, 1978.
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[PubMed: 567843]
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[Full Text: https://doi.org/10.1126/science.567843]
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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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Gonen, N., Futtner, C. R., Wood, S., Garcia-Moreno, S. A., Salamone, I. M., Samson, S. C., Sekido, R., Poulat, F., Maatouk, D. M., Lovell-Badge, R.
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|
<strong>Sex reversal following deletion of a single distal enhancer of Sox9.</strong>
|
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Science 360: 1469-1473, 2018.
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[PubMed: 29903884]
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[Full Text: https://doi.org/10.1126/science.aas9408]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kim, G.-J., Sock, E., Buchberger, A., Just, W., Denzer, F., Hoepffner, W., German, J., Cole, T., Mann, J., Seguin, J. H., Zipf, W., Costigan, C., and 17 others.
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|
<strong>Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.</strong>
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J. Med. Genet. 52: 240-247, 2015.
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[PubMed: 25604083]
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[Full Text: https://doi.org/10.1136/jmedgenet-2014-102864]
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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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Mann, J. R., Corkery, J. J., Fisher, H. J. W., Cameron, A. H., Mayerova, A., Wolf, U., Kennaugh, A. A., Woolley, V.
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|
<strong>The X-linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.</strong>
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J. Med. Genet. 20: 264-270, 1983.
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[PubMed: 6620326]
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[Full Text: https://doi.org/10.1136/jmg.20.4.264]
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</p>
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</li>
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</ol>
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<div>
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<br />
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<div 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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Ada Hamosh - updated : 09/04/2018
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Marla J. F. O'Neill : 6/16/2015
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alopez : 02/08/2021<br>alopez : 09/04/2018<br>alopez : 07/13/2018<br>alopez : 06/22/2015<br>mcolton : 6/16/2015
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</div>
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</body>
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</html>
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