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Entry
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- #614841 - HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12
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- OMIM
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<p>
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<span class="h4">#614841</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/614841"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS147950"> <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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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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<li role="presentation">
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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 style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA" 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8668&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1334/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=614841[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=432" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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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:0090072" 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/614841" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 432<br />
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<strong>DO:</strong> 0090072<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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614841
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC<br />
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GONADOTROPIN DEFICIENCY, FAMILIAL IDIOPATHIC; FIGD
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/8/139?start=-3&limit=10&highlight=139">
|
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8p21.2
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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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?Hypogonadotropic hypogonadism 12 with or without anosmia
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
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<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
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</span>
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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/614841"> 614841 </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 recessive">AR</abbr>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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GNRH1
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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/152760"> 152760 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614841" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="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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<a href="/phenotypicSeries/PS147950" 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')">
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<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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/614841" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614841" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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">
|
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<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">
|
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<strong> INHERITANCE </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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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed or absent thelarche <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3553927&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3553927</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025515" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025515</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
|
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|
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</div>
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|
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</div>
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|
|
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Small testes <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 /> -
|
|
Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</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">
|
|
|
|
- Primary amenorrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/156035004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">156035004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8913004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8913004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N91.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N91.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232939</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000786" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000786</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000786" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000786</a>]</span><br /> -
|
|
Small uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289624004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289624004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35850006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35850006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.811</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0567041&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0567041</a>, <a href="https://bioportal.bioontology.org/search?q=C0266399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span><br /> -
|
|
Small ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289837004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289837004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0567252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0567252</a>]</span><br /> -
|
|
Few to no follicles on ultrasonography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013924</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absence of pubic hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2042123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2042123</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
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|
|
|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypogonadotropic hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22053006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22053006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33927004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405769009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405769009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E23.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E23.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q98.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q98.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q98.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q98.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/758.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">758.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271623</a>, <a href="https://bioportal.bioontology.org/search?q=C0022735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000044</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000044</a>]</span><br /> -
|
|
Delayed or absent puberty <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677536&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677536</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span><br /> -
|
|
Low to undetectable gonadotropin levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011624&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011624</a>]</span><br /> -
|
|
Low testosterone level <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011625&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011625</a>]</span><br /> -
|
|
Low estradiol level <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011626&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011626</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Based on report of 1 family (last curated October 2014)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
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|
|
<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 mutation in the gonadotropic-releasing hormone 1 gene (GNRH1, <a href="/entry/152760#0001">152760.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
|
|
|
<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">
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Hypogonadotropic hypogonadism with or without anosmia
|
|
- <a href="/phenotypicSeries/PS147950">PS147950</a>
|
|
- 27 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/1/952?start=-3&limit=10&highlight=952"> 1p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619755"> ?Hypogonadotropic hypogonadism 27 without anosmia </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/619755"> 619755 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162361"> NHLH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162361"> 162361 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1607?start=-3&limit=10&highlight=1607"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614842"> ?Hypogonadotropic hypogonadism 13 with or without anosmia </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/614842"> 614842 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603286"> KISS1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603286"> 603286 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/631?start=-3&limit=10&highlight=631"> 2q14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614880"> {Hypogonadotropic hypogonadism 15 with or without anosmia} </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/614880"> 614880 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604846"> HS6ST1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604846"> 604846 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/410?start=-3&limit=10&highlight=410"> 3p14.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615267"> Hypogonadotropic hypogonadism 18 with or without anosmia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/615267"> 615267 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606807"> IL17RD </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606807"> 606807 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/459?start=-3&limit=10&highlight=459"> 3p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610628"> Hypogonadotropic hypogonadism 4 with or without anosmia </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/610628"> 610628 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607002"> PROK2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607002"> 607002 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/255?start=-3&limit=10&highlight=255"> 4q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146110"> Hypogonadotropic hypogonadism 7 without anosmia </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/146110"> 146110 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138850"> GNRHR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/138850"> 138850 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/456?start=-3&limit=10&highlight=456"> 4q24 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614840"> Hypogonadotropic hypogonadism 11 with or without anosmia </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/614840"> 614840 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162332"> TACR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162332"> 162332 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/524?start=-3&limit=10&highlight=524"> 4q27 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618841"> Hypogonadotropic hypogonadism 25 with anosmia </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/618841"> 618841 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616506"> NDNF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616506"> 616506 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/616?start=-3&limit=10&highlight=616"> 5q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615266"> Hypogonadotropic hypogonadism 17 with or without anosmia </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/615266"> 615266 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607984"> SPRY4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607984"> 607984 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/380?start=-3&limit=10&highlight=380"> 7q21.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614897"> {Hypogonadotropic hypogonadism 16 with or without anosmia} </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/614897"> 614897 </a>
|
|
</span>
|
|
</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/603961"> SEMA3A </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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<a href="/entry/603961"> 603961 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/622?start=-3&limit=10&highlight=622"> 7q31.32 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
|
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<a href="/entry/616030"> Hypogonadotropic hypogonadism 22, with or without anosmia </a>
|
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</span>
|
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</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>
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|
|
|
</span>
|
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</td>
|
|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/616030"> 616030 </a>
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613301"> FEZF1 </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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<a href="/entry/613301"> 613301 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
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|
<span class="mim-font">
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|
|
|
<a href="/geneMap/8/99?start=-3&limit=10&highlight=99"> 8p21.3 </a>
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|
|
</span>
|
|
</td>
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/615270"> Hypogonadotropic hypogonadism 20 with or without anosmia </a>
|
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</span>
|
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</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/615270"> 615270 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603725"> FGF17 </a>
|
|
</span>
|
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</td>
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|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603725"> 603725 </a>
|
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</span>
|
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</td>
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/139?start=-3&limit=10&highlight=139"> 8p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614841"> ?Hypogonadotropic hypogonadism 12 with or without anosmia </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/614841"> 614841 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/152760"> GNRH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/152760"> 152760 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/211?start=-3&limit=10&highlight=211"> 8p11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/147950"> Hypogonadotropic hypogonadism 2 with or without anosmia </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/147950"> 147950 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/136350"> FGFR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/136350"> 136350 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/295?start=-3&limit=10&highlight=295"> 8q12.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612370"> Hypogonadotropic hypogonadism 5 with or without anosmia </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/612370"> 612370 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608892"> CHD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608892"> 608892 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/698?start=-3&limit=10&highlight=698"> 9q34.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614838"> Hypogonadotropic hypogonadism 9 with or without anosmia </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/614838"> 614838 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608137"> NSMF </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608137"> 608137 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/502?start=-3&limit=10&highlight=502"> 10q24.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612702"> Hypogonadotropic hypogonadism 6 with or without anosmia </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/612702"> 612702 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600483"> FGF8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600483"> 600483 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/617?start=-3&limit=10&highlight=617"> 10q26.12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614858"> Hypogonadotropic hypogonadism 14 with or without anosmia </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/614858"> 614858 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606417"> WDR11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/606417"> 606417 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/266?start=-3&limit=10&highlight=266"> 11p14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/229070"> Hypogonadotropic hypogonadism 24 without anosmia </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/229070"> 229070 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/136530"> FSHB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/136530"> 136530 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/528?start=-3&limit=10&highlight=528"> 12q13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614839"> Hypogonadotropic hypogonadism 10 with or without anosmia </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/614839"> 614839 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162330"> TAC3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/162330"> 162330 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/669?start=-3&limit=10&highlight=669"> 12q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615269"> Hypogonadotropic hypogonadism 19 with or without anosmia </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/615269"> 615269 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602748"> DUSP6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602748"> 602748 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/242?start=-3&limit=10&highlight=242"> 15q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619718"> Hypogonadotropic hypogonadism 26 with or without anosmia </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/619718"> 619718 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600480"> TCF12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600480"> 600480 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/35?start=-3&limit=10&highlight=35"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614837"> Hypogonadotropic hypogonadism 8 with or without anosmia </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/614837"> 614837 </a>
|
|
</span>
|
|
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<p>A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-12 with or without anosmia (HH12) is caused by homozygous mutation in the GNRH1 gene (<a href="/entry/152760">152760</a>) on chromosome 8p21. One such family has been reported.</p>
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<p>Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; <a href="/entry/152760">152760</a>) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by <a href="#10" class="mim-tip-reference" title="Raivio, T., Falardeau, J., Dwyer, A., Quinton, R., Hayes, F. J., Hughes, V. A., Cole, L. W., Pearce, S. H., Lee, H., Boepple, P., Crowley, W. F., Jr., Pitteloud, N. <strong>Reversal of idiopathic hypogonadotropic hypogonadism.</strong> New Eng. J. Med. 357: 863-873, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17761590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17761590</a>] [<a href="https://doi.org/10.1056/NEJMoa066494" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17761590">Raivio et al., 2007</a>). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17761590" 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 hypogonadotropic hypogonadism with or without anosmia, see <a href="/entry/147950">147950</a>.</p>
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<p><a href="#3" class="mim-tip-reference" title="Biben, R. L., Gordan, G. S. <strong>Familial hypogonadotropic eunuchoidism.</strong> J. Clin. Endocr. 15: 931-942, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13242646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13242646</a>] [<a href="https://doi.org/10.1210/jcem-15-8-931" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13242646">Biben and Gordan (1955)</a> described affected males and females in a family with what they designated 'familial hypogonadotropic eunuchoidism.' <a href="#8" class="mim-tip-reference" title="Hurxthal, L. M. <strong>Sublingual use of testosterone in 7 cases of hypogonadism: report of 3 congenital eunuchoids occurring in one family.</strong> J. Clin. Endocr. 3: 551-556, 1943."None>Hurxthal (1943)</a> reported a family in which only members of 1 generation were affected. <a href="#9" class="mim-tip-reference" title="Le Marquand, H. S. <strong>Congenital hypogonadotrophic hypogonadism in five members of a family, three brothers and two sisters.</strong> Proc. Roy. Soc. Med. 47: 442-446, 1954.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13177550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13177550</a>]" pmid="13177550">Le Marquand (1954)</a> described 3 affected brothers and 2 affected sisters from a nonconsanguineous family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13177550+13242646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Ewer, R. W. <strong>Familial monotropic pituitary gonadotropin insufficiency.</strong> J. Clin. Endocr. 28: 783-788, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5656436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5656436</a>] [<a href="https://doi.org/10.1210/jcem-28-6-783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5656436">Ewer (1968)</a> observed an affected brother and 2 sisters from a marriage of second cousins once removed. Another male sib, deceased, was probably affected. Absence of secondary sex characteristics and relatively long extremities were the only abnormal findings. Clomiphene administration had no effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5656436" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Toledo, S. P. A., Luthold, W., Mattar, E. <strong>Familial idiopathic gonadotropin deficiency: a hypothalamic form of hypogonadism.</strong> Am. J. Med. Genet. 15: 405-416, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6410916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6410916</a>] [<a href="https://doi.org/10.1002/ajmg.1320150306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6410916">Toledo et al. (1983)</a> reported 2 brothers and a sister with a hypothalamic form of hypogonadism that the authors designated 'familial idiopathic gonadotropin deficiency' (FIGD). <a href="#12" class="mim-tip-reference" title="Toledo, S. P. A., Luthold, W., Mattar, E. <strong>Familial idiopathic gonadotropin deficiency: a hypothalamic form of hypogonadism.</strong> Am. J. Med. Genet. 15: 405-416, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6410916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6410916</a>] [<a href="https://doi.org/10.1002/ajmg.1320150306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6410916">Toledo et al. (1983)</a> concluded that this disorder is due to insufficiency of GNRH secretion and that sensitivity of Leydig cells to human chorionic gonadotropin (hCG; see <a href="/entry/118860">118860</a>) is normal in FIGD. They also stated that luteinizing hormone-releasing hormone (LRH) treatment may be helpful; that associated hypothalamic-pituitary-prolactin dysfunction may be present; and that FIGD and the Kallmann syndrome (see <a href="/entry/147950">147950</a>) are distinct entities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6410916" 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>To further define the genetic and phenotypic variability of FIGD, <a href="#13" class="mim-tip-reference" title="Waldstreicher, J., Seminara, S. B., Jameson, J. L., Geyer, A., Nachtigall, L. B., Boepple, P. A., Holmes, L. B., Crowley, W.F., Jr. <strong>The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.</strong> J. Clin. Endocr. Metab. 81: 4388-4395, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954047</a>] [<a href="https://doi.org/10.1210/jcem.81.12.8954047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954047">Waldstreicher et al. (1996)</a> reviewed detailed family histories of 106 cases of GNRH deficiency with or without anosmia, i.e., Kallmann syndrome or idiopathic hypogonadotropic hypogonadism (IHH). The great majority of cases appeared to be sporadic, with only 19 probands (18%) having at least 1 family member with GNRH deficiency. However, of the families in which the proband was the sole member affected by Kallmann syndrome or IHH, 9 had individuals with isolated anosmia, and 8 had a strong history of delayed puberty. If these phenotypes were considered as variable expressions of Kallmann syndrome or IHH seen in the proband, then 34% of the cases could be considered familial. The proportion of familial cases that could be attributed to an X-linked mode of inheritance was no greater than 36% in any of these analyses. <a href="#13" class="mim-tip-reference" title="Waldstreicher, J., Seminara, S. B., Jameson, J. L., Geyer, A., Nachtigall, L. B., Boepple, P. A., Holmes, L. B., Crowley, W.F., Jr. <strong>The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.</strong> J. Clin. Endocr. Metab. 81: 4388-4395, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954047</a>] [<a href="https://doi.org/10.1210/jcem.81.12.8954047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954047">Waldstreicher et al. (1996)</a> concluded that (1) most cases of GNRH deficiency in humans are sporadic and thus could represent new mutations; (2) the X-linked form is the least common among familial cases of Kallmann syndrome or IHH; (3) defects in at least 2 autosomal genes can cause GNRH deficiency; and (4) associated clinical defects may provide clues to the nature and/or location of these autosomal genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954047" 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="Bouligand, J., Ghervan, C., Tello, J. A., Brailly-Tabard, S., Salenave, S., Chanson, P., Lombes, M., Millar, R. P., Guiochon-Mantel, A., Young, J. <strong>Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.</strong> New Eng. J. Med. 360: 2742-2748, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19535795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19535795</a>] [<a href="https://doi.org/10.1056/NEJMoa0900136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19535795">Bouligand et al. (2009)</a> studied a Romanian brother and sister with normosmic hypogonadotropic hypogonadism. The brother, who was referred at 18 years of age because pubertal development had not occurred, exhibited typical signs of complete hypogonadism, with small intrascrotal testes, no pubic hair, and microphallus. His bone age was 13.0 years; he had a normal sense of smell on olfactometry, and had no renal or craniofacial abnormalities. His affected sister, who was evaluated at 17 years of age, also had complete hypogonadism and a normal sense of smell on olfactometry. She had no breast development and no pubic hair, and menarche had not occurred. Pelvic sonography showed a small uterus and 2 small ovaries with no visible follicles. The sibs' karyotypes were 46,XY and 46,XX, respectively. Hormone assays revealed very low plasma testosterone levels in the affected brother and an almost undetectable plasma estradiol level in the affected sister. Both sibs had very low levels of plasma gonadotropin (see <a href="/entry/118860">118860</a>) and normal levels of prolactin (<a href="/entry/176760">176760</a>). They both showed a blunted response to GnRH bolus administration, but otherwise had normal function of the anterior pituitary, thyroid, and adrenal glands, as well as normal levels of ferritin (see <a href="/entry/134790">134790</a>) and serum insulin-like growth factor-1 (IGF1; <a href="/entry/147440">147440</a>) and normal findings on MRI of the pituitary and olfactory bulbs. The sister had basal nonpulsatile luteinizing hormone (LH; see <a href="/entry/152780">152780</a>) secretion, but LH pulses, occurring synchronously with GnRH boluses, were detected on day 13 of pulsatile GnRH administration. Pulsatile GnRH administration also resulted in increased circulating levels of estradiol and inhibin-beta (see <a href="/entry/147290">147290</a>) and in the recruitment of a single dominant 14-mm follicle seen on ultrasonography. The sibs' unrelated parents reported normal puberty, and the mother had spontaneous regular menses, unassisted conception, and normal pregnancies; there were also 2 unaffected sibs who had normal puberty and normal sex steroid and gonadotropin levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19535795" 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 an 18-year-old Romanian man from a Transylvanian mountain village who had normosmic hypogonadotropic hypogonadism and was negative for mutation in the GNRHR1, GPR54, KISS1, FGFR1, and GNRH2 genes, <a href="#4" class="mim-tip-reference" title="Bouligand, J., Ghervan, C., Tello, J. A., Brailly-Tabard, S., Salenave, S., Chanson, P., Lombes, M., Millar, R. P., Guiochon-Mantel, A., Young, J. <strong>Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.</strong> New Eng. J. Med. 360: 2742-2748, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19535795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19535795</a>] [<a href="https://doi.org/10.1056/NEJMoa0900136" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19535795">Bouligand et al. (2009)</a> identified homozygosity for a 1-bp insertion in the GNRH1 gene (<a href="/entry/152760#0001">152760.0001</a>). His affected sister was also homozygous for the mutation, and his unaffected parents and an unaffected sister were heterozygotes, as was 1 of 200 ancestrally matched Romanian controls; haplotype analysis suggested a founding event 8 to 50 generations earlier. The mutation was not found in 100 unrelated Caucasian eugonadal individuals or in 145 unrelated Caucasian patients with sporadic normosmic IHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19535795" 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 discussion of a possible second homozygous mutation in the GNRH1 gene causing hypogonadotropic hypogonadism, see <a href="/entry/152760#0002">152760.0002</a>.</p><p><strong><em>Oligogenic Inheritance</em></strong></p><p>
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In a cohort of 310 patients with normosmic HH, <a href="#6" class="mim-tip-reference" title="Chan, Y.-M., de Guillebon, A., Lang-Muritano, M., Plummer, L., Cerrato, F., Tsiaras, S., Gaspert, A., Lavoie, H. B., Wu, C.-H., Crowley, W. F., Jr., Amory, J. K., Pitteloud, N., Seminara, S. B. <strong>GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.</strong> Proc. Nat. Acad. Sci. 106: 11703-11708, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19567835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19567835</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19567835[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0903449106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19567835">Chan et al. (2009)</a> analyzed the HH-associated genes GNRH1, FGFR1 (<a href="/entry/136350">136350</a>), and PROKR2 (<a href="/entry/607123">607123</a>), and identified rare heterozygous variants in all 3 genes in the proband of a 3-generation pedigree: R31C in GNRH1, I239T in FGFR1, and S202G in PROKR2. The proband had affected twin daughters, one of whom carried the GNRH1 and FGFR1 variants, whereas the other carried only the GNRH1 variant. A niece who was originally diagnosed with hypothalamic amenorrhea, in which the reproductive phenotype becomes apparent only in the presence of an external stressor, also carried only the GNRH1 variant. <a href="#5" class="mim-tip-reference" title="Chan, Y.-M. <strong>A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency.</strong> Molec. Cell. Endocr. 346: 51-56, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21722705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21722705</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21722705[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.mce.2011.06.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21722705">Chan (2011)</a> stated that the niece's phenotype was later revised to normosmic HH. In addition, 2 paternal aunts of the proband had HH, but DNA was not available for study. At 42 years of age, the proband exhibited reversal of HH, with normal menstrual cycles after stopping hormone therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21722705+19567835" 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="#1" class="mim-tip-reference" title="Beier, D. R., Dluhy, R. G. <strong>Bench and bedside--the G protein-coupled receptor GPR54 and puberty.</strong> New Eng. J. Med. 349: 1589-1592, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14573729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14573729</a>] [<a href="https://doi.org/10.1056/NEJMp038155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14573729">Beier and Dluhy (2003)</a> noted that mutation in the GNRH1 gene had been identified as the cause of hypogonadotropic hypogonadism in mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14573729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Betend1977" class="mim-tip-reference" title="Betend, B., Lebacq, E., Jr., David, L., Claustrat, B., Francois, R. <strong>Familial idiopathic hypogonadotrophic hypogonadism.</strong> Acta Endocr. 84: 246-253, 1977.">Betend et al. (1977)</a>; <a href="#Spitz1974" class="mim-tip-reference" title="Spitz, I. M., Diamant, Y., Rosen, E., Bell, J., Ben-David, M., Polishuk, W. Z., Rabinowitz, D. <strong>Isolated gonadotropin deficiency: a heterogenous syndrome.</strong> New Eng. J. Med. 290: 10-15, 1974.">Spitz et al. (1974)</a>
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Beier, D. R., Dluhy, R. G.
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<strong>Bench and bedside--the G protein-coupled receptor GPR54 and puberty.</strong>
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New Eng. J. Med. 349: 1589-1592, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14573729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14573729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14573729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMp038155" target="_blank">Full Text</a>]
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Betend, B., Lebacq, E., Jr., David, L., Claustrat, B., Francois, R.
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<strong>Familial idiopathic hypogonadotrophic hypogonadism.</strong>
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Acta Endocr. 84: 246-253, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/319614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">319614</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=319614" 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/10.1530/acta.0.0840246" target="_blank">Full Text</a>]
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Biben, R. L., Gordan, G. S.
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<strong>Familial hypogonadotropic eunuchoidism.</strong>
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J. Clin. Endocr. 15: 931-942, 1955.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13242646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13242646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13242646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bouligand, J., Ghervan, C., Tello, J. A., Brailly-Tabard, S., Salenave, S., Chanson, P., Lombes, M., Millar, R. P., Guiochon-Mantel, A., Young, J.
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<strong>Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.</strong>
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New Eng. J. Med. 360: 2742-2748, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19535795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19535795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19535795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa0900136" target="_blank">Full Text</a>]
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Chan, Y.-M.
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<strong>A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency.</strong>
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Molec. Cell. Endocr. 346: 51-56, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21722705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21722705</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21722705[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21722705" 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/j.mce.2011.06.013" target="_blank">Full Text</a>]
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Chan, Y.-M., de Guillebon, A., Lang-Muritano, M., Plummer, L., Cerrato, F., Tsiaras, S., Gaspert, A., Lavoie, H. B., Wu, C.-H., Crowley, W. F., Jr., Amory, J. K., Pitteloud, N., Seminara, S. B.
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<strong>GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.</strong>
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Proc. Nat. Acad. Sci. 106: 11703-11708, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19567835/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19567835</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19567835[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19567835" 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/10.1073/pnas.0903449106" target="_blank">Full Text</a>]
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Ewer, R. W.
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<strong>Familial monotropic pituitary gonadotropin insufficiency.</strong>
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J. Clin. Endocr. 28: 783-788, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5656436/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5656436</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5656436" 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-28-6-783" target="_blank">Full Text</a>]
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Hurxthal, L. M.
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<strong>Sublingual use of testosterone in 7 cases of hypogonadism: report of 3 congenital eunuchoids occurring in one family.</strong>
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J. Clin. Endocr. 3: 551-556, 1943.
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Le Marquand, H. S.
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<strong>Congenital hypogonadotrophic hypogonadism in five members of a family, three brothers and two sisters.</strong>
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Proc. Roy. Soc. Med. 47: 442-446, 1954.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13177550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13177550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13177550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Raivio2007" class="mim-anchor"></a>
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<p class="mim-text-font">
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Raivio, T., Falardeau, J., Dwyer, A., Quinton, R., Hayes, F. J., Hughes, V. A., Cole, L. W., Pearce, S. H., Lee, H., Boepple, P., Crowley, W. F., Jr., Pitteloud, N.
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<strong>Reversal of idiopathic hypogonadotropic hypogonadism.</strong>
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New Eng. J. Med. 357: 863-873, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17761590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17761590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17761590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa066494" target="_blank">Full Text</a>]
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<a id="Spitz1974" class="mim-anchor"></a>
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<p class="mim-text-font">
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Spitz, I. M., Diamant, Y., Rosen, E., Bell, J., Ben-David, M., Polishuk, W. Z., Rabinowitz, D.
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<strong>Isolated gonadotropin deficiency: a heterogenous syndrome.</strong>
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New Eng. J. Med. 290: 10-15, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4586101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4586101</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4586101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM197401032900103" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Toledo1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Toledo, S. P. A., Luthold, W., Mattar, E.
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<strong>Familial idiopathic gonadotropin deficiency: a hypothalamic form of hypogonadism.</strong>
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Am. J. Med. Genet. 15: 405-416, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6410916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6410916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6410916" 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.1320150306" target="_blank">Full Text</a>]
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<a id="Waldstreicher1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waldstreicher, J., Seminara, S. B., Jameson, J. L., Geyer, A., Nachtigall, L. B., Boepple, P. A., Holmes, L. B., Crowley, W.F., Jr.
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<strong>The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.</strong>
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J. Clin. Endocr. Metab. 81: 4388-4395, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8954047" 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.81.12.8954047" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/3/2015
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/23/2014
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Marla J. F. O'Neill : 9/27/2012
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carol : 10/24/2016
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alopez : 04/07/2015<br>alopez : 4/6/2015<br>mcolton : 4/3/2015<br>carol : 3/27/2015<br>mcolton : 3/26/2015<br>carol : 10/23/2014<br>mcolton : 10/23/2014<br>carol : 10/15/2014<br>mcolton : 10/10/2014<br>carol : 9/27/2012
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<strong>#</strong> 614841
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HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA; HH12
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EUNUCHOIDISM, FAMILIAL HYPOGONADOTROPIC<br />
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GONADOTROPIN DEFICIENCY, FAMILIAL IDIOPATHIC; FIGD
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<strong>ORPHA:</strong> 432;
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<strong>DO:</strong> 0090072;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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8p21.2
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<span class="mim-font">
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?Hypogonadotropic hypogonadism 12 with or without anosmia
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<span class="mim-font">
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614841
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<span class="mim-font">
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Autosomal recessive
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3
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GNRH1
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152760
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that hypogonadotropic hypogonadism-12 with or without anosmia (HH12) is caused by homozygous mutation in the GNRH1 gene (152760) on chromosome 8p21. One such family has been reported.</p>
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<strong>Description</strong>
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<p>Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' </p><p>For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950.</p>
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<strong>Clinical Features</strong>
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<p>Biben and Gordan (1955) described affected males and females in a family with what they designated 'familial hypogonadotropic eunuchoidism.' Hurxthal (1943) reported a family in which only members of 1 generation were affected. Le Marquand (1954) described 3 affected brothers and 2 affected sisters from a nonconsanguineous family. </p><p>Ewer (1968) observed an affected brother and 2 sisters from a marriage of second cousins once removed. Another male sib, deceased, was probably affected. Absence of secondary sex characteristics and relatively long extremities were the only abnormal findings. Clomiphene administration had no effect. </p><p>Toledo et al. (1983) reported 2 brothers and a sister with a hypothalamic form of hypogonadism that the authors designated 'familial idiopathic gonadotropin deficiency' (FIGD). Toledo et al. (1983) concluded that this disorder is due to insufficiency of GNRH secretion and that sensitivity of Leydig cells to human chorionic gonadotropin (hCG; see 118860) is normal in FIGD. They also stated that luteinizing hormone-releasing hormone (LRH) treatment may be helpful; that associated hypothalamic-pituitary-prolactin dysfunction may be present; and that FIGD and the Kallmann syndrome (see 147950) are distinct entities. </p><p>To further define the genetic and phenotypic variability of FIGD, Waldstreicher et al. (1996) reviewed detailed family histories of 106 cases of GNRH deficiency with or without anosmia, i.e., Kallmann syndrome or idiopathic hypogonadotropic hypogonadism (IHH). The great majority of cases appeared to be sporadic, with only 19 probands (18%) having at least 1 family member with GNRH deficiency. However, of the families in which the proband was the sole member affected by Kallmann syndrome or IHH, 9 had individuals with isolated anosmia, and 8 had a strong history of delayed puberty. If these phenotypes were considered as variable expressions of Kallmann syndrome or IHH seen in the proband, then 34% of the cases could be considered familial. The proportion of familial cases that could be attributed to an X-linked mode of inheritance was no greater than 36% in any of these analyses. Waldstreicher et al. (1996) concluded that (1) most cases of GNRH deficiency in humans are sporadic and thus could represent new mutations; (2) the X-linked form is the least common among familial cases of Kallmann syndrome or IHH; (3) defects in at least 2 autosomal genes can cause GNRH deficiency; and (4) associated clinical defects may provide clues to the nature and/or location of these autosomal genes. </p><p>Bouligand et al. (2009) studied a Romanian brother and sister with normosmic hypogonadotropic hypogonadism. The brother, who was referred at 18 years of age because pubertal development had not occurred, exhibited typical signs of complete hypogonadism, with small intrascrotal testes, no pubic hair, and microphallus. His bone age was 13.0 years; he had a normal sense of smell on olfactometry, and had no renal or craniofacial abnormalities. His affected sister, who was evaluated at 17 years of age, also had complete hypogonadism and a normal sense of smell on olfactometry. She had no breast development and no pubic hair, and menarche had not occurred. Pelvic sonography showed a small uterus and 2 small ovaries with no visible follicles. The sibs' karyotypes were 46,XY and 46,XX, respectively. Hormone assays revealed very low plasma testosterone levels in the affected brother and an almost undetectable plasma estradiol level in the affected sister. Both sibs had very low levels of plasma gonadotropin (see 118860) and normal levels of prolactin (176760). They both showed a blunted response to GnRH bolus administration, but otherwise had normal function of the anterior pituitary, thyroid, and adrenal glands, as well as normal levels of ferritin (see 134790) and serum insulin-like growth factor-1 (IGF1; 147440) and normal findings on MRI of the pituitary and olfactory bulbs. The sister had basal nonpulsatile luteinizing hormone (LH; see 152780) secretion, but LH pulses, occurring synchronously with GnRH boluses, were detected on day 13 of pulsatile GnRH administration. Pulsatile GnRH administration also resulted in increased circulating levels of estradiol and inhibin-beta (see 147290) and in the recruitment of a single dominant 14-mm follicle seen on ultrasonography. The sibs' unrelated parents reported normal puberty, and the mother had spontaneous regular menses, unassisted conception, and normal pregnancies; there were also 2 unaffected sibs who had normal puberty and normal sex steroid and gonadotropin levels. </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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<span class="mim-text-font">
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<p>In an 18-year-old Romanian man from a Transylvanian mountain village who had normosmic hypogonadotropic hypogonadism and was negative for mutation in the GNRHR1, GPR54, KISS1, FGFR1, and GNRH2 genes, Bouligand et al. (2009) identified homozygosity for a 1-bp insertion in the GNRH1 gene (152760.0001). His affected sister was also homozygous for the mutation, and his unaffected parents and an unaffected sister were heterozygotes, as was 1 of 200 ancestrally matched Romanian controls; haplotype analysis suggested a founding event 8 to 50 generations earlier. The mutation was not found in 100 unrelated Caucasian eugonadal individuals or in 145 unrelated Caucasian patients with sporadic normosmic IHH. </p><p>For discussion of a possible second homozygous mutation in the GNRH1 gene causing hypogonadotropic hypogonadism, see 152760.0002.</p><p><strong><em>Oligogenic Inheritance</em></strong></p><p>
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In a cohort of 310 patients with normosmic HH, Chan et al. (2009) analyzed the HH-associated genes GNRH1, FGFR1 (136350), and PROKR2 (607123), and identified rare heterozygous variants in all 3 genes in the proband of a 3-generation pedigree: R31C in GNRH1, I239T in FGFR1, and S202G in PROKR2. The proband had affected twin daughters, one of whom carried the GNRH1 and FGFR1 variants, whereas the other carried only the GNRH1 variant. A niece who was originally diagnosed with hypothalamic amenorrhea, in which the reproductive phenotype becomes apparent only in the presence of an external stressor, also carried only the GNRH1 variant. Chan (2011) stated that the niece's phenotype was later revised to normosmic HH. In addition, 2 paternal aunts of the proband had HH, but DNA was not available for study. At 42 years of age, the proband exhibited reversal of HH, with normal menstrual cycles after stopping hormone therapy. </p>
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<p>Beier and Dluhy (2003) noted that mutation in the GNRH1 gene had been identified as the cause of hypogonadotropic hypogonadism in mice. </p>
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<strong>See Also:</strong>
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Betend et al. (1977); Spitz et al. (1974)
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Beier, D. R., Dluhy, R. G.
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<strong>Bench and bedside--the G protein-coupled receptor GPR54 and puberty.</strong>
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Betend, B., Lebacq, E., Jr., David, L., Claustrat, B., Francois, R.
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<strong>Familial idiopathic hypogonadotrophic hypogonadism.</strong>
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Acta Endocr. 84: 246-253, 1977.
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<strong>Familial hypogonadotropic eunuchoidism.</strong>
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Bouligand, J., Ghervan, C., Tello, J. A., Brailly-Tabard, S., Salenave, S., Chanson, P., Lombes, M., Millar, R. P., Guiochon-Mantel, A., Young, J.
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<strong>Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.</strong>
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Chan, Y.-M.
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<strong>A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency.</strong>
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Molec. Cell. Endocr. 346: 51-56, 2011.
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Chan, Y.-M., de Guillebon, A., Lang-Muritano, M., Plummer, L., Cerrato, F., Tsiaras, S., Gaspert, A., Lavoie, H. B., Wu, C.-H., Crowley, W. F., Jr., Amory, J. K., Pitteloud, N., Seminara, S. B.
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<strong>GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism.</strong>
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[Full Text: https://doi.org/10.1073/pnas.0903449106]
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Ewer, R. W.
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<strong>Familial monotropic pituitary gonadotropin insufficiency.</strong>
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J. Clin. Endocr. 28: 783-788, 1968.
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[PubMed: 5656436]
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[Full Text: https://doi.org/10.1210/jcem-28-6-783]
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Hurxthal, L. M.
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<strong>Sublingual use of testosterone in 7 cases of hypogonadism: report of 3 congenital eunuchoids occurring in one family.</strong>
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J. Clin. Endocr. 3: 551-556, 1943.
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Le Marquand, H. S.
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<strong>Congenital hypogonadotrophic hypogonadism in five members of a family, three brothers and two sisters.</strong>
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Proc. Roy. Soc. Med. 47: 442-446, 1954.
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[PubMed: 13177550]
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Raivio, T., Falardeau, J., Dwyer, A., Quinton, R., Hayes, F. J., Hughes, V. A., Cole, L. W., Pearce, S. H., Lee, H., Boepple, P., Crowley, W. F., Jr., Pitteloud, N.
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<strong>Reversal of idiopathic hypogonadotropic hypogonadism.</strong>
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New Eng. J. Med. 357: 863-873, 2007.
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[PubMed: 17761590]
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[Full Text: https://doi.org/10.1056/NEJMoa066494]
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Spitz, I. M., Diamant, Y., Rosen, E., Bell, J., Ben-David, M., Polishuk, W. Z., Rabinowitz, D.
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<strong>Isolated gonadotropin deficiency: a heterogenous syndrome.</strong>
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New Eng. J. Med. 290: 10-15, 1974.
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[PubMed: 4586101]
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[Full Text: https://doi.org/10.1056/NEJM197401032900103]
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Toledo, S. P. A., Luthold, W., Mattar, E.
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<strong>Familial idiopathic gonadotropin deficiency: a hypothalamic form of hypogonadism.</strong>
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Am. J. Med. Genet. 15: 405-416, 1983.
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[PubMed: 6410916]
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[Full Text: https://doi.org/10.1002/ajmg.1320150306]
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Waldstreicher, J., Seminara, S. B., Jameson, J. L., Geyer, A., Nachtigall, L. B., Boepple, P. A., Holmes, L. B., Crowley, W.F., Jr.
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<strong>The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.</strong>
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J. Clin. Endocr. Metab. 81: 4388-4395, 1996.
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[PubMed: 8954047]
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[Full Text: https://doi.org/10.1210/jcem.81.12.8954047]
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Marla J. F. O'Neill - updated : 4/3/2015<br>Marla J. F. O'Neill - updated : 10/23/2014
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