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Entry
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- #300942 - CHROMOSOME Xq26.3 DUPLICATION SYNDROME
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- OMIM
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<p>
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<span class="h4">#300942</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="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/300942"><strong>Clinical Synopsis</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="#pathogenesis">Pathogenesis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=CHROMOSOME Xq26.3 DUPLICATION SYNDROME" 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=21116&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/NBK476671/" 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://medlineplus.gov/genetics/condition/x-linked-acrogigantism" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300942[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=300373" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/7cdba043-0612-41bd-a438-9610b73cbf6c/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 789187001<br />
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<strong>ORPHA:</strong> 300373<br />
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">ICD+</a>
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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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300942
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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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CHROMOSOME Xq26.3 DUPLICATION SYNDROME
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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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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CHROMOSOME Xq26 MICRODUPLICATION SYNDROME<br />
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X-LINKED ACROGIGANTISM; XLAG
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</span>
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</h4>
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</div>
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<div>
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<br />
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/X/699?start=-3&limit=10&highlight=699">Xq26.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:134500001-138900000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:134,500,001-138,900,000</a> </span>
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</em>
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</strong>
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<br />
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/X/699?start=-3&limit=10&highlight=699">
|
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Xq26.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Chromosome Xq26.3 duplication syndrome
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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/300942"> 300942 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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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="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
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</span>
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</td>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/300942" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<p />
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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|
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tall stature (+3.4 SD) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012405</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248328003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248328003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span><br /> -
|
|
Increased height velocity (+6.1 SD) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012406</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Increased weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262286000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262286000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/816159004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">816159004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161831008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161831008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043094</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004324</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br /> -
|
|
Acromegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74107003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74107003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001206</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033794</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033794" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033794</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Widening of interdental spaces <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2054562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2054562</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ventricular hypertrophy, mild (noted in 1 patient) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012407&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012407</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/266249003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">266249003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001714" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001714</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nasopharynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sleep apnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73430006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73430006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.57" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.57</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3496180&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3496180</a>, <a href="https://bioportal.bioontology.org/search?q=C0037315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037315</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010535" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010535</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010535" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010535</a>]</span><br /> -
|
|
Snoring <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72863001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72863001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025267</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025267" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025267</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Increased appetite <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72405004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72405004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3815569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3815569</a>, <a href="https://bioportal.bioontology.org/search?q=C0232461&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232461</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002591</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Advanced bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123982003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123982003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0545053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0545053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249752003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249752003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001176</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001176</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299462005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299462005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001833</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001833" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001833</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> Skin </em>
|
|
</span>
|
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Acanthosis nigricans <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402599005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402599005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72129000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72129000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000956</a>]</span><br /> -
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Skin thickening <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271815000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271815000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241165</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001072</a>]</span><br />
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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<em> Central Nervous System </em>
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- Pituitary adenoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254956000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254956000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032000</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span><br />
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<strong> ENDOCRINE FEATURES </strong>
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<div style="margin-left: 2em;">
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- Increased sweating at early age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012401</a>]</span><br /> -
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Prominent body odor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012402</a>]</span><br /> -
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Elevated growth hormone (GH) levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012403</a>]</span><br /> -
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Elevated IGF1 levels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012404</a>]</span><br /> -
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Elevated prolactin levels <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/131008004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">131008004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0747979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0747979</a>]</span><br /> -
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Pituitary adenoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254956000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254956000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0032000&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0032000</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002893" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002893</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset of overgrowth in the first year of life (in most cases)<br /> -
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Onset of overgrowth in second to third month of life (in some cases)<br />
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</span>
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</div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by contiguous gene duplication (chrX:135.6-136.1, GRCh37) on Xq26.3<br />
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because it represents a contiguous gene duplication syndrome (chrX:135.6-136.1, GRCh37).</p>
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<br />
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<p>X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; <a href="/entry/139250">139250</a>) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (<a href="#1" class="mim-tip-reference" title="Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others. <strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong> Endocr. Relat. Cancer 22: 353-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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/10.1530/ERC-15-0038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712922">Beckers et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25712922" 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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<br />
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p><a href="#2" class="mim-tip-reference" title="Bergamaschi, S., Ronchi, C. L., Giavoli, C., Ferrante, E., Verrua, E., Ferrari, D. I., Lania, A., Rusconi, R., Spada, A., Beck-Peccoz, P. <strong>Eight-year follow-up of a child with a GH/prolactin-secreting adenoma: efficacy of pegvisomant therapy.</strong> Horm. Res. Paediat. 73: 74-79, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20190543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20190543</a>] [<a href="https://doi.org/10.1159/000271919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20190543">Bergamaschi et al. (2010)</a> reported the clinical features of a 3.4-year-old girl with gigantism due to a growth hormone/prolactin-secreting adenoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20190543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Glasker, S., Vortmeyer, A. O., Lafferty, A. R. A., Hofman, P. L., Li, J., Weil, R. J., Zhuang, Z., Oldfield, E. H. <strong>Hereditary pituitary hyperplasia with infantile gigantism.</strong> J. Clin. Endocr. Metab. 96: E2078-E2087, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21976722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21976722</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21976722[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/10.1210/jc.2011-1401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21976722">Glasker et al. (2011)</a> reported a mother and 2 sons with early-onset gigantism and high levels of growth hormone and prolactin. The mother and older son had pituitary adenoma, while the younger son had diffuse hyperplasia of mammosomatotrophs with no evidence of adenoma. The mother had been reported by <a href="#5" class="mim-tip-reference" title="Espiner, E. A., Carter, T. A. H., Abbott, G. D., Wrightson, P. <strong>Pituitary gigantism in a 31 month old girl: endocrine studies and successful response to hypophysectomy.</strong> J. Endocr. Invest. 4: 445-450, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278015</a>] [<a href="https://doi.org/10.1007/BF03348309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6278015">Espiner et al. (1981)</a> as 'the youngest example of verified pituitary gigantism on record.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6278015+21976722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> studied 43 patients with nonsyndromic gigantism without abnormalities in genes associated with pituitary tumors. Genetic analyses delineated 2 phenotypes: an early-childhood form of gigantism with a typical onset in late infancy, and a second form with a typical onset in adolescence. Microduplications on chromosome Xq26.3 were detected in 14 patients (including the patients reported by <a href="#2" class="mim-tip-reference" title="Bergamaschi, S., Ronchi, C. L., Giavoli, C., Ferrante, E., Verrua, E., Ferrari, D. I., Lania, A., Rusconi, R., Spada, A., Beck-Peccoz, P. <strong>Eight-year follow-up of a child with a GH/prolactin-secreting adenoma: efficacy of pegvisomant therapy.</strong> Horm. Res. Paediat. 73: 74-79, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20190543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20190543</a>] [<a href="https://doi.org/10.1159/000271919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20190543">Bergamaschi et al. (2010)</a> and <a href="#6" class="mim-tip-reference" title="Glasker, S., Vortmeyer, A. O., Lafferty, A. R. A., Hofman, P. L., Li, J., Weil, R. J., Zhuang, Z., Oldfield, E. H. <strong>Hereditary pituitary hyperplasia with infantile gigantism.</strong> J. Clin. Endocr. Metab. 96: E2078-E2087, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21976722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21976722</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21976722[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/10.1210/jc.2011-1401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21976722">Glasker et al. (2011)</a>) with the early-childhood form; 5 patients, including 1 mother who was deceased, were from 2 unrelated kindreds, and 9 patients were sporadic cases. The median age of onset for patients carrying the microduplication was 1 year, with a range of 0.5 to 2 years. The median age at diagnosis was 3 years, with a range of 1 to 22 years. Median height at diagnosis was 116 cm (+3.8 SD, range = +1.9 to +7.1 SD). All had elevated levels of growth hormone and insulin-like growth factor-1 (IGF1; <a href="/entry/147440">147440</a>) at diagnosis; none showed suppression of growth hormone during oral glucose tolerance test. Ninety-three percent showed elevated prolactin (<a href="/entry/176760">176760</a>) levels at diagnosis. Ten patients had adenoma only; 2 patients had both adenoma and hyperplasia; and 1 had hyperplasia only. Ten of the 14 patients with microduplication were female and were of normal size at birth. Precocious puberty was not observed in microduplication carriers. Hormonal control was not achieved in any of the patients by medical therapy alone. Such control required either radical or repeated neurosurgery alone alone (in 4 patients) or in combination with the administration of the growth hormone receptor antagonist pegvisomant (in 3 patients) or radiotherapy (in 2 patients). Seven patients had permanent hypopituitarism at the time of the study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21976722+20190543+25470569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others. <strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong> Endocr. Relat. Cancer 22: 353-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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/10.1530/ERC-15-0038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712922">Beckers et al. (2015)</a> reported 18 patients with XLAG syndrome, including 13 previously studied by <a href="#11" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a>. There were 2 families with 3 and 2 affected members, and 13 sporadic cases. All patients had pituitary abnormalities at diagnosis, 14 of which appeared to be a macroadenoma on MRI, whereas the remaining cases showed pituitary enlargement without an identifiable adenoma. Tumor extension to the optic chiasm was frequent (12 cases), whereas invasion of the cavernous sinus was present in only 2 patients at diagnosis. <a href="#1" class="mim-tip-reference" title="Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others. <strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong> Endocr. Relat. Cancer 22: 353-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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/10.1530/ERC-15-0038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712922">Beckers et al. (2015)</a> stated that a unifying feature of XLAG syndrome is the strikingly early age at onset, given that the children appear clinically normal at birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25712922+25470569" 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="#3" class="mim-tip-reference" title="Daly, A. F., Lysy, P. A., Desfilles, C., Rostomyan, L., Mohamed, A., Caberg, J.-H., Raverot, V., Castermans, E., Marbaix, E., Maiter, D., Brunelle, C., Trivellin, G., Stratakis, C. A., Bours, V., Raftopoulos, C., Beauloye, V., Barlier, A., Beckers, A. <strong>GHRH excess and blockade in X-LAG syndrome.</strong> Endocr. Relat. Cancer 23: 161-170, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26671997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26671997</a>] [<a href="https://doi.org/10.1530/ERC-15-0478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26671997">Daly et al. (2016)</a> analyzed tissue from a pituitary tumor resected from a 2-year-old girl with XLAG syndrome. The tumor was determined to be a combination of extensive GH/prolactin-positive hyperplasia of the anterior pituitary with an atypical mixed GH/prolactin adenoma, and staining for somatostatin receptor subtypes 2 (SSTR2; <a href="/entry/182452">182452</a>) and 5 (SSTR5; <a href="/entry/182455">182455</a>) was moderate to high. In vitro, the pituitary cells showed baseline GH and prolactin release that was further stimulated by GHRH administration. Coincubation with GHRH and a GHRH receptor antagonist blocked the GHRH-induced GH stimulation, and the GHRH receptor antagonist alone significantly reduced GH release. The multi-receptor somatostatin analog pasireotide, but not octreotide, which mainly targets SSTR2, inhibited GH secretion. A ghrelin receptor agonist and an inverse agonist led to modest, statistically significant increases and decreases in GH secretion, respectively. <a href="#3" class="mim-tip-reference" title="Daly, A. F., Lysy, P. A., Desfilles, C., Rostomyan, L., Mohamed, A., Caberg, J.-H., Raverot, V., Castermans, E., Marbaix, E., Maiter, D., Brunelle, C., Trivellin, G., Stratakis, C. A., Bours, V., Raftopoulos, C., Beauloye, V., Barlier, A., Beckers, A. <strong>GHRH excess and blockade in X-LAG syndrome.</strong> Endocr. Relat. Cancer 23: 161-170, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26671997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26671997</a>] [<a href="https://doi.org/10.1530/ERC-15-0478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26671997">Daly et al. (2016)</a> concluded that GHRH hypersecretion can accompany the pituitary abnormalities seen in XLAG syndrome, and suggested that the pathology of the disorder may include hypothalamic dysregulation of GHRH secretion, consistent with localization of GPR101 (<a href="/entry/300393">300393</a>) in the hypothalamus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26671997" 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="Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others. <strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong> Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245663</a>] [<a href="https://doi.org/10.1186/s40478-016-0328-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27245663">Iacovazzo et al. (2016)</a> studied 12 patients with XLAG, including 10 female patients with germline duplications and 2 male patients who exhibited mosaicism for duplications at Xq26.3 (see CYTOGENETICS). In 9 (75%) of the patients, macroadenomas were present, all of which showed suprasellar extension. However, MRI in 3 (25%) of the patients showed diffuse enlargement of the gland, suggestive of pituitary hyperplasia rather than a distinct adenoma. The authors noted that features of the XLAG-related pituitary adenomas were remarkably similar, with most patients developing mixed somatotroph/lactotroph adenomas showing a characteristic sinusoidal and lobular architecture and containing both densely granulated and sparsely granulated somatotroph cells. Microcalcifications and follicle-like structures were common, and mitotic activity was generally low. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Mosaicism</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Daly, A. F., Yuan, B., Fina, F., Caberg, J.-H., Trivellin, G., Rostomyan, L., de Herder, W. W., Naves, L. A., Metzger, D., Cuny, T., Rabl, W., Shah, N., and 19 others. <strong>Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.</strong> Endocr. Relat. Cancer 23: 221-233, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26935837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26935837</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26935837[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/10.1530/ERC-16-0082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26935837">Daly et al. (2016)</a> studied 18 patients with XLAG, including 15 previously reported patients (<a href="#11" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al., 2014</a>; <a href="#1" class="mim-tip-reference" title="Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others. <strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong> Endocr. Relat. Cancer 22: 353-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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/10.1530/ERC-15-0038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712922">Beckers et al., 2015</a>; <a href="#9" class="mim-tip-reference" title="Naves, L. A., Daly, A. F., Dias, L. A., Yuan, B., Zakir, J. C. O., Barra, G. B., Palmeira, L., Villa, C., Trivellin, G., Junior, A. J., Neto, F. F. C., Liu P., Pellegata, N. S., Stratakis, C. A., Lupski, J. R., Beckers, A. <strong>Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.</strong> Endocrine 51: 236-244, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26607152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26607152</a>] [<a href="https://doi.org/10.1007/s12020-015-0804-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26607152">Naves et al., 2016</a>). The patients' duplications were all unique, ranging in size from 554 to 674 kb, with variable boundaries; all included the GPR101 gene. High-density array comparative genomic hybridization revealed decreased log(2) ratios in all 6 male patients, consistent with somatic mosaicism, whereas none of the female XLAG patients showed evidence of mosaicism. The levels of duplication were lower in 3 sporadic cases than in 3 familial cases. Quantitative droplet digital PCR (ddPCR) confirmed low-level mosaicism in the sporadic cases (approximately 59%, 29%, and 18%, respectively) compared to the familial cases, in whom the mosaicism level was intermediate between that of the sporadic cases and the lack of mosaicism in the female XLAG patients. <a href="#4" class="mim-tip-reference" title="Daly, A. F., Yuan, B., Fina, F., Caberg, J.-H., Trivellin, G., Rostomyan, L., de Herder, W. W., Naves, L. A., Metzger, D., Cuny, T., Rabl, W., Shah, N., and 19 others. <strong>Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.</strong> Endocr. Relat. Cancer 23: 221-233, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26935837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26935837</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26935837[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/10.1530/ERC-16-0082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26935837">Daly et al. (2016)</a> concluded that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at Xq26.3 in male patients. Noting that the clinical characteristics of the disease were similarly severe in both sexes, they suggested that the impact of X-chromosome inactivation in female XLAG patients should be considered. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25712922+26607152+26935837+25470569" 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="Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others. <strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong> Endocr. Relat. Cancer 22: 353-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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/10.1530/ERC-15-0038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712922">Beckers et al. (2015)</a> analyzed the clinical management of 18 patients with XLAG syndrome, including 13 previously studied by <a href="#11" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a>, noting that although somatostatin analogs (SSAs) are the mainstay of medical treatment of GH excess, their efficacy is poor in the setting of XLAG. None of the patients achieved primary or secondary control of their disease or GH/IGF1 secretion with SSAs, even when using adult doses in young children. <a href="#1" class="mim-tip-reference" title="Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others. <strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong> Endocr. Relat. Cancer 22: 353-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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/10.1530/ERC-15-0038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712922">Beckers et al. (2015)</a> stated that the poor SSA response was not due to low expression of somatostatin receptors, since analysis of the 6 cases in which there was adequate tissue for immunohistochemistry demonstrated moderate to high expression of SSTR2, the main target of octreotide and lanreotide, the SSAs administered to these patients. In addition, 5 of the 6 tumors stained positively for SSTR5, 4 showed high expression of SSTR3 (<a href="/entry/182453">182453</a>), and 3 were also positive for SSTR1 (<a href="/entry/182451">182451</a>). Neurosurgery was performed or planned in all cases, but was frequently associated with significant pituitary dysfunction, including GH deficiency. Conversely, very small residual tumor was capable of maintaining levels of GH/IGF1 above normal for many years, thereby necessitating chronic medical therapy. However, these residual tumor tissues did not regrow significantly, which <a href="#1" class="mim-tip-reference" title="Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others. <strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong> Endocr. Relat. Cancer 22: 353-367, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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/10.1530/ERC-15-0038" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25712922">Beckers et al. (2015)</a> suggested might be due to the low proliferative index observed in most cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25712922+25470569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Naves, L. A., Daly, A. F., Dias, L. A., Yuan, B., Zakir, J. C. O., Barra, G. B., Palmeira, L., Villa, C., Trivellin, G., Junior, A. J., Neto, F. F. C., Liu P., Pellegata, N. S., Stratakis, C. A., Lupski, J. R., Beckers, A. <strong>Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.</strong> Endocrine 51: 236-244, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26607152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26607152</a>] [<a href="https://doi.org/10.1007/s12020-015-0804-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26607152">Naves et al. (2016)</a> reported an 11.5-year-old boy with XLAG, in whom excessive growth was established by 2.5 years of age. He was diagnosed with pituitary gigantism at 5.75 years of age, at which time MRI showed a very large intra- and suprasellar mass with compression of the chiasma but no cavernous sinus invasion. The family declined treatment and the patient was lost to follow-up, until he presented again at age 10.5 years with headaches, seizures, and visual disturbances. Visual examination showed bitemporal hemianopsia. He had GH/IGF1 hypersecretion, marked hyperprolactinemia, and hypopituitarism of the thyrotrope, corticotrope,and gonadotrope axes. Repeat MRI showed an invasive intra- and suprasellar mass that had grown markedly, with compression of optic chiasma, cystic degeneration of the suprasellar portion, bilateral cavernous sinus invasion, and encasement of the internal carotid arteries, as well as hydrocephalus. Despite debulking and treatment with SSAs, GH levels remained elevated, IGF1 was in the high normal range, and his vertical growth continued; further resection and radiotherapy were planned. Immunohistochemical analysis confirmed the tumor as a typical XLAG mixed GH- and PRL-secreting adenoma; however, Ki-67 (see <a href="/entry/176741">176741</a>) was 3.5% and there were more than 2 mitoses per high-powered field, indicating higher proliferation than in other XLAG syndrome cases. <a href="#9" class="mim-tip-reference" title="Naves, L. A., Daly, A. F., Dias, L. A., Yuan, B., Zakir, J. C. O., Barra, G. B., Palmeira, L., Villa, C., Trivellin, G., Junior, A. J., Neto, F. F. C., Liu P., Pellegata, N. S., Stratakis, C. A., Lupski, J. R., Beckers, A. <strong>Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.</strong> Endocrine 51: 236-244, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26607152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26607152</a>] [<a href="https://doi.org/10.1007/s12020-015-0804-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26607152">Naves et al. (2016)</a> stated that this case illustrated the aggressive nature of tumor evolution and the challenging clinical management in XLAG syndrome, emphasizing the importance of early intervention. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26607152" 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="#11" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> reported 1 family with familial isolated pituitary adenomas that included an affected mother and 2 affected sons, described previously by <a href="#6" class="mim-tip-reference" title="Glasker, S., Vortmeyer, A. O., Lafferty, A. R. A., Hofman, P. L., Li, J., Weil, R. J., Zhuang, Z., Oldfield, E. H. <strong>Hereditary pituitary hyperplasia with infantile gigantism.</strong> J. Clin. Endocr. Metab. 96: E2078-E2087, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21976722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21976722</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21976722[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/10.1210/jc.2011-1401" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21976722">Glasker et al. (2011)</a>, who carried the same Xq26.3 microduplication; the unaffected father did not have the duplication. In another family with this condition, the mother had childhood-onset gigantism and a histologically confirmed pituitary macroadenoma but had died of complications of hypopituitarism. She had 2 children: the son carried the Xq26.3 microduplication and had childhood-onset gigantism, and the healthy daughter did not have the duplication. <a href="#11" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> concluded that Xq26.3 microduplications can be a pathogenic explanation in kindreds with familial isolated pituitary adenomas and acrogigantism without AIP (<a href="/entry/605555">605555</a>) mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21976722+25470569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using array comparative genomic hybridization, <a href="#11" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> found 10 different microduplications of chromosome Xq26.3 in 12 patients with familial or sporadic gigantism. All sporadic duplications were nonrecurrent. The same duplication was transmitted from an affected mother to her 2 affected offspring. The common duplicated genomic segment was approximately 500 kb in length, from position 135,627,637 to 136,118,269 (GRCh37). One patient had a complex genomic rearrangement with 2 duplicated segments that were separated by a short region of genomic sequence. This allowed the delineation of 2 smallest regions of overlap (SROs), one (SRO1) a 359-kb region (chrX:135,627,637-135,986,830, GRCh37) that encompasses 3 genes (CD40LG, <a href="/entry/300386">300386</a>; ARHGEF6, <a href="/entry/300267">300267</a>; and RBMX, <a href="/entry/300199">300199</a>) and the other (SRO2) a 73-kb region (chrX:136,045,310-136,118,269, GRCh37) encompassing the GPR101 gene (<a href="/entry/300393">300393</a>). Of all the genes in the duplicated segments, only GPR101 had markedly increased expression in the pituitary tumors of patients carrying the microduplication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470569" 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>From a cohort of 153 patients diagnosed with pituitary gigantism, <a href="#7" class="mim-tip-reference" title="Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others. <strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong> Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245663</a>] [<a href="https://doi.org/10.1186/s40478-016-0328-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27245663">Iacovazzo et al. (2016)</a> identified 12 patients with microduplications at Xq26.3, including 10 female patients with germline duplications, 1 of whom (case IV) was originally described by <a href="#8" class="mim-tip-reference" title="Moran, A., Asa, S. L., Kovacs, K., Horvath, E., Singer, W., Sagman, U., Reubi, J.-C., Wilson, C. B., Larson, R., Pescovitz, O. H. <strong>Gigantism due to pituitary mammosomatotroph hyperplasia.</strong> New Eng. J. Med. 323: 322-327, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2164153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2164153</a>] [<a href="https://doi.org/10.1056/NEJM199008023230507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2164153">Moran et al. (1990)</a>. In addition, 2 male patients harbored a duplication in mosaic state, 1 of whom (case IX) was previously reported by <a href="#10" class="mim-tip-reference" title="Rodd, C., Millette, M., Iacovazzo, D., Stiles, C. E., Barry, S., Evanson, J., Albrecht, S., Caswell, R., Bunce, B., Jose, S., Trouillas, J., Roncaroli, F., Sampson, J., Ellard, S., Korbonits, M. <strong>Somatic GPR101 duplication causing X-linked acrogigantism (XLAG)--diagnosis and management.</strong> J. Clin. Endocr. Metab. 101: 1927-1930, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26982009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26982009</a>] [<a href="https://doi.org/10.1210/jc.2015-4366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26982009">Rodd et al. (2016)</a>. In 7 of the patients, the CNVs encompassed 4 genes (CD40LG, ARHGEF6, RBMX, and GPR101), but in 1 patient (case I), the distal duplication narrowed the smallest region of overlap to an interval encompassing only the GPR101 gene. Most of the duplications occurred due to the fork-stalling and template-switching/microhomology-mediated break-induced replication mechanism, but in 1 patient (case III) the duplication was generated via an Alu-Alu mediated rearrangement. There was no history of pituitary disease in any of the families, and in the 4 germline cases in which DNA samples were available from both parents, the duplication was shown to have arisen de novo in the proband. The authors concluded that GPR101 is the causative gene in the Xq26.3 region, since duplication of GPR101 alone was sufficient to cause the XLAG phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2164153+26982009+27245663" 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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Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others.
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Endocr. Relat. Cancer 22: 353-367, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25712922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25712922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25712922[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=25712922" 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/ERC-15-0038" target="_blank">Full Text</a>]
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<strong>Eight-year follow-up of a child with a GH/prolactin-secreting adenoma: efficacy of pegvisomant therapy.</strong>
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Horm. Res. Paediat. 73: 74-79, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20190543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20190543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20190543" 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/10.1159/000271919" target="_blank">Full Text</a>]
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Daly, A. F., Lysy, P. A., Desfilles, C., Rostomyan, L., Mohamed, A., Caberg, J.-H., Raverot, V., Castermans, E., Marbaix, E., Maiter, D., Brunelle, C., Trivellin, G., Stratakis, C. A., Bours, V., Raftopoulos, C., Beauloye, V., Barlier, A., Beckers, A.
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<strong>GHRH excess and blockade in X-LAG syndrome.</strong>
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Endocr. Relat. Cancer 23: 161-170, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26671997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26671997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26671997" 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/ERC-15-0478" target="_blank">Full Text</a>]
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Daly2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Daly, A. F., Yuan, B., Fina, F., Caberg, J.-H., Trivellin, G., Rostomyan, L., de Herder, W. W., Naves, L. A., Metzger, D., Cuny, T., Rabl, W., Shah, N., and 19 others.
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<strong>Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.</strong>
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Endocr. Relat. Cancer 23: 221-233, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26935837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26935837</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26935837[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=26935837" 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/ERC-16-0082" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Espiner1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Espiner, E. A., Carter, T. A. H., Abbott, G. D., Wrightson, P.
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<strong>Pituitary gigantism in a 31 month old girl: endocrine studies and successful response to hypophysectomy.</strong>
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J. Endocr. Invest. 4: 445-450, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6278015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6278015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6278015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF03348309" target="_blank">Full Text</a>]
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Glasker2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Glasker, S., Vortmeyer, A. O., Lafferty, A. R. A., Hofman, P. L., Li, J., Weil, R. J., Zhuang, Z., Oldfield, E. H.
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<strong>Hereditary pituitary hyperplasia with infantile gigantism.</strong>
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J. Clin. Endocr. Metab. 96: E2078-E2087, 2011. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21976722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21976722</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21976722[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=21976722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2011-1401" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Iacovazzo2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others.
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<strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong>
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Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245663" 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/10.1186/s40478-016-0328-1" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Moran1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Moran, A., Asa, S. L., Kovacs, K., Horvath, E., Singer, W., Sagman, U., Reubi, J.-C., Wilson, C. B., Larson, R., Pescovitz, O. H.
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<strong>Gigantism due to pituitary mammosomatotroph hyperplasia.</strong>
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New Eng. J. Med. 323: 322-327, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2164153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2164153</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2164153" 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/NEJM199008023230507" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Naves2016" class="mim-anchor"></a>
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Naves, L. A., Daly, A. F., Dias, L. A., Yuan, B., Zakir, J. C. O., Barra, G. B., Palmeira, L., Villa, C., Trivellin, G., Junior, A. J., Neto, F. F. C., Liu P., Pellegata, N. S., Stratakis, C. A., Lupski, J. R., Beckers, A.
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<strong>Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.</strong>
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Endocrine 51: 236-244, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26607152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26607152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26607152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s12020-015-0804-6" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Rodd2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rodd, C., Millette, M., Iacovazzo, D., Stiles, C. E., Barry, S., Evanson, J., Albrecht, S., Caswell, R., Bunce, B., Jose, S., Trouillas, J., Roncaroli, F., Sampson, J., Ellard, S., Korbonits, M.
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<strong>Somatic GPR101 duplication causing X-linked acrogigantism (XLAG)--diagnosis and management.</strong>
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J. Clin. Endocr. Metab. 101: 1927-1930, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26982009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26982009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26982009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1210/jc.2015-4366" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Trivellin2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others.
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<strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong>
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New Eng. J. Med. 371: 2363-2374, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[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=25470569" 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/NEJMoa1408028" target="_blank">Full Text</a>]
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</ol>
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<br />
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</div>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 07/09/2018
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/27/2016<br>Marla J. F. O'Neill - updated : 4/8/2016
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</span>
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</div>
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</div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 1/26/2015
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/21/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 07/09/2018<br>carol : 04/27/2016<br>carol : 4/8/2016<br>alopez : 1/30/2015<br>alopez : 1/29/2015<br>alopez : 1/27/2015<br>alopez : 1/27/2015
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 300942
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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CHROMOSOME Xq26.3 DUPLICATION SYNDROME
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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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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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CHROMOSOME Xq26 MICRODUPLICATION SYNDROME<br />
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X-LINKED ACROGIGANTISM; XLAG
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</span>
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</h4>
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<br />
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 789187001;
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<strong>ORPHA:</strong> 300373;
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</span>
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</p>
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<div>
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<br />
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: Xq26.3
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Genomic coordinates <span class="small">(GRCh38)</span> : X:134,500,001-138,900,000 </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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</tr>
|
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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Xq26.3
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
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Chromosome Xq26.3 duplication syndrome
|
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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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300942
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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X-linked dominant
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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4
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because it represents a contiguous gene duplication syndrome (chrX:135.6-136.1, GRCh37).</p>
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<strong>Description</strong>
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<p>X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1; 139250) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015). </p>
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<strong>Clinical Features</strong>
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<p>Bergamaschi et al. (2010) reported the clinical features of a 3.4-year-old girl with gigantism due to a growth hormone/prolactin-secreting adenoma. </p><p>Glasker et al. (2011) reported a mother and 2 sons with early-onset gigantism and high levels of growth hormone and prolactin. The mother and older son had pituitary adenoma, while the younger son had diffuse hyperplasia of mammosomatotrophs with no evidence of adenoma. The mother had been reported by Espiner et al. (1981) as 'the youngest example of verified pituitary gigantism on record.' </p><p>Trivellin et al. (2014) studied 43 patients with nonsyndromic gigantism without abnormalities in genes associated with pituitary tumors. Genetic analyses delineated 2 phenotypes: an early-childhood form of gigantism with a typical onset in late infancy, and a second form with a typical onset in adolescence. Microduplications on chromosome Xq26.3 were detected in 14 patients (including the patients reported by Bergamaschi et al. (2010) and Glasker et al. (2011)) with the early-childhood form; 5 patients, including 1 mother who was deceased, were from 2 unrelated kindreds, and 9 patients were sporadic cases. The median age of onset for patients carrying the microduplication was 1 year, with a range of 0.5 to 2 years. The median age at diagnosis was 3 years, with a range of 1 to 22 years. Median height at diagnosis was 116 cm (+3.8 SD, range = +1.9 to +7.1 SD). All had elevated levels of growth hormone and insulin-like growth factor-1 (IGF1; 147440) at diagnosis; none showed suppression of growth hormone during oral glucose tolerance test. Ninety-three percent showed elevated prolactin (176760) levels at diagnosis. Ten patients had adenoma only; 2 patients had both adenoma and hyperplasia; and 1 had hyperplasia only. Ten of the 14 patients with microduplication were female and were of normal size at birth. Precocious puberty was not observed in microduplication carriers. Hormonal control was not achieved in any of the patients by medical therapy alone. Such control required either radical or repeated neurosurgery alone alone (in 4 patients) or in combination with the administration of the growth hormone receptor antagonist pegvisomant (in 3 patients) or radiotherapy (in 2 patients). Seven patients had permanent hypopituitarism at the time of the study. </p><p>Beckers et al. (2015) reported 18 patients with XLAG syndrome, including 13 previously studied by Trivellin et al. (2014). There were 2 families with 3 and 2 affected members, and 13 sporadic cases. All patients had pituitary abnormalities at diagnosis, 14 of which appeared to be a macroadenoma on MRI, whereas the remaining cases showed pituitary enlargement without an identifiable adenoma. Tumor extension to the optic chiasm was frequent (12 cases), whereas invasion of the cavernous sinus was present in only 2 patients at diagnosis. Beckers et al. (2015) stated that a unifying feature of XLAG syndrome is the strikingly early age at onset, given that the children appear clinically normal at birth. </p>
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<strong>Pathogenesis</strong>
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<p>Daly et al. (2016) analyzed tissue from a pituitary tumor resected from a 2-year-old girl with XLAG syndrome. The tumor was determined to be a combination of extensive GH/prolactin-positive hyperplasia of the anterior pituitary with an atypical mixed GH/prolactin adenoma, and staining for somatostatin receptor subtypes 2 (SSTR2; 182452) and 5 (SSTR5; 182455) was moderate to high. In vitro, the pituitary cells showed baseline GH and prolactin release that was further stimulated by GHRH administration. Coincubation with GHRH and a GHRH receptor antagonist blocked the GHRH-induced GH stimulation, and the GHRH receptor antagonist alone significantly reduced GH release. The multi-receptor somatostatin analog pasireotide, but not octreotide, which mainly targets SSTR2, inhibited GH secretion. A ghrelin receptor agonist and an inverse agonist led to modest, statistically significant increases and decreases in GH secretion, respectively. Daly et al. (2016) concluded that GHRH hypersecretion can accompany the pituitary abnormalities seen in XLAG syndrome, and suggested that the pathology of the disorder may include hypothalamic dysregulation of GHRH secretion, consistent with localization of GPR101 (300393) in the hypothalamus. </p><p>Iacovazzo et al. (2016) studied 12 patients with XLAG, including 10 female patients with germline duplications and 2 male patients who exhibited mosaicism for duplications at Xq26.3 (see CYTOGENETICS). In 9 (75%) of the patients, macroadenomas were present, all of which showed suprasellar extension. However, MRI in 3 (25%) of the patients showed diffuse enlargement of the gland, suggestive of pituitary hyperplasia rather than a distinct adenoma. The authors noted that features of the XLAG-related pituitary adenomas were remarkably similar, with most patients developing mixed somatotroph/lactotroph adenomas showing a characteristic sinusoidal and lobular architecture and containing both densely granulated and sparsely granulated somatotroph cells. Microcalcifications and follicle-like structures were common, and mitotic activity was generally low. </p><p><strong><em>Somatic Mosaicism</em></strong></p><p>
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Daly et al. (2016) studied 18 patients with XLAG, including 15 previously reported patients (Trivellin et al., 2014; Beckers et al., 2015; Naves et al., 2016). The patients' duplications were all unique, ranging in size from 554 to 674 kb, with variable boundaries; all included the GPR101 gene. High-density array comparative genomic hybridization revealed decreased log(2) ratios in all 6 male patients, consistent with somatic mosaicism, whereas none of the female XLAG patients showed evidence of mosaicism. The levels of duplication were lower in 3 sporadic cases than in 3 familial cases. Quantitative droplet digital PCR (ddPCR) confirmed low-level mosaicism in the sporadic cases (approximately 59%, 29%, and 18%, respectively) compared to the familial cases, in whom the mosaicism level was intermediate between that of the sporadic cases and the lack of mosaicism in the female XLAG patients. Daly et al. (2016) concluded that XLAG syndrome can be caused by variable degrees of somatic mosaicism for duplications at Xq26.3 in male patients. Noting that the clinical characteristics of the disease were similarly severe in both sexes, they suggested that the impact of X-chromosome inactivation in female XLAG patients should be considered. </p>
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<strong>Clinical Management</strong>
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<p>Beckers et al. (2015) analyzed the clinical management of 18 patients with XLAG syndrome, including 13 previously studied by Trivellin et al. (2014), noting that although somatostatin analogs (SSAs) are the mainstay of medical treatment of GH excess, their efficacy is poor in the setting of XLAG. None of the patients achieved primary or secondary control of their disease or GH/IGF1 secretion with SSAs, even when using adult doses in young children. Beckers et al. (2015) stated that the poor SSA response was not due to low expression of somatostatin receptors, since analysis of the 6 cases in which there was adequate tissue for immunohistochemistry demonstrated moderate to high expression of SSTR2, the main target of octreotide and lanreotide, the SSAs administered to these patients. In addition, 5 of the 6 tumors stained positively for SSTR5, 4 showed high expression of SSTR3 (182453), and 3 were also positive for SSTR1 (182451). Neurosurgery was performed or planned in all cases, but was frequently associated with significant pituitary dysfunction, including GH deficiency. Conversely, very small residual tumor was capable of maintaining levels of GH/IGF1 above normal for many years, thereby necessitating chronic medical therapy. However, these residual tumor tissues did not regrow significantly, which Beckers et al. (2015) suggested might be due to the low proliferative index observed in most cases. </p><p>Naves et al. (2016) reported an 11.5-year-old boy with XLAG, in whom excessive growth was established by 2.5 years of age. He was diagnosed with pituitary gigantism at 5.75 years of age, at which time MRI showed a very large intra- and suprasellar mass with compression of the chiasma but no cavernous sinus invasion. The family declined treatment and the patient was lost to follow-up, until he presented again at age 10.5 years with headaches, seizures, and visual disturbances. Visual examination showed bitemporal hemianopsia. He had GH/IGF1 hypersecretion, marked hyperprolactinemia, and hypopituitarism of the thyrotrope, corticotrope,and gonadotrope axes. Repeat MRI showed an invasive intra- and suprasellar mass that had grown markedly, with compression of optic chiasma, cystic degeneration of the suprasellar portion, bilateral cavernous sinus invasion, and encasement of the internal carotid arteries, as well as hydrocephalus. Despite debulking and treatment with SSAs, GH levels remained elevated, IGF1 was in the high normal range, and his vertical growth continued; further resection and radiotherapy were planned. Immunohistochemical analysis confirmed the tumor as a typical XLAG mixed GH- and PRL-secreting adenoma; however, Ki-67 (see 176741) was 3.5% and there were more than 2 mitoses per high-powered field, indicating higher proliferation than in other XLAG syndrome cases. Naves et al. (2016) stated that this case illustrated the aggressive nature of tumor evolution and the challenging clinical management in XLAG syndrome, emphasizing the importance of early intervention. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>Trivellin et al. (2014) reported 1 family with familial isolated pituitary adenomas that included an affected mother and 2 affected sons, described previously by Glasker et al. (2011), who carried the same Xq26.3 microduplication; the unaffected father did not have the duplication. In another family with this condition, the mother had childhood-onset gigantism and a histologically confirmed pituitary macroadenoma but had died of complications of hypopituitarism. She had 2 children: the son carried the Xq26.3 microduplication and had childhood-onset gigantism, and the healthy daughter did not have the duplication. Trivellin et al. (2014) concluded that Xq26.3 microduplications can be a pathogenic explanation in kindreds with familial isolated pituitary adenomas and acrogigantism without AIP (605555) mutations. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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<span class="mim-text-font">
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<p>Using array comparative genomic hybridization, Trivellin et al. (2014) found 10 different microduplications of chromosome Xq26.3 in 12 patients with familial or sporadic gigantism. All sporadic duplications were nonrecurrent. The same duplication was transmitted from an affected mother to her 2 affected offspring. The common duplicated genomic segment was approximately 500 kb in length, from position 135,627,637 to 136,118,269 (GRCh37). One patient had a complex genomic rearrangement with 2 duplicated segments that were separated by a short region of genomic sequence. This allowed the delineation of 2 smallest regions of overlap (SROs), one (SRO1) a 359-kb region (chrX:135,627,637-135,986,830, GRCh37) that encompasses 3 genes (CD40LG, 300386; ARHGEF6, 300267; and RBMX, 300199) and the other (SRO2) a 73-kb region (chrX:136,045,310-136,118,269, GRCh37) encompassing the GPR101 gene (300393). Of all the genes in the duplicated segments, only GPR101 had markedly increased expression in the pituitary tumors of patients carrying the microduplication. </p><p>From a cohort of 153 patients diagnosed with pituitary gigantism, Iacovazzo et al. (2016) identified 12 patients with microduplications at Xq26.3, including 10 female patients with germline duplications, 1 of whom (case IV) was originally described by Moran et al. (1990). In addition, 2 male patients harbored a duplication in mosaic state, 1 of whom (case IX) was previously reported by Rodd et al. (2016). In 7 of the patients, the CNVs encompassed 4 genes (CD40LG, ARHGEF6, RBMX, and GPR101), but in 1 patient (case I), the distal duplication narrowed the smallest region of overlap to an interval encompassing only the GPR101 gene. Most of the duplications occurred due to the fork-stalling and template-switching/microhomology-mediated break-induced replication mechanism, but in 1 patient (case III) the duplication was generated via an Alu-Alu mediated rearrangement. There was no history of pituitary disease in any of the families, and in the 4 germline cases in which DNA samples were available from both parents, the duplication was shown to have arisen de novo in the proband. The authors concluded that GPR101 is the causative gene in the Xq26.3 region, since duplication of GPR101 alone was sufficient to cause the XLAG phenotype. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<p class="mim-text-font">
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Beckers, A., Lodish, M. B., Trivellin, G., Rostomyan, L., Lee, M., Faucz, F. R., Yuan, B., Choong, C. S., Caberg, J.-H., Verrua, E., Naves, L. A., Cheetham, T. D., and 35 others.
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<strong>X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</strong>
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Endocr. Relat. Cancer 22: 353-367, 2015.
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[PubMed: 25712922]
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[Full Text: https://doi.org/10.1530/ERC-15-0038]
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</p>
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</li>
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<p class="mim-text-font">
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Bergamaschi, S., Ronchi, C. L., Giavoli, C., Ferrante, E., Verrua, E., Ferrari, D. I., Lania, A., Rusconi, R., Spada, A., Beck-Peccoz, P.
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<strong>Eight-year follow-up of a child with a GH/prolactin-secreting adenoma: efficacy of pegvisomant therapy.</strong>
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Horm. Res. Paediat. 73: 74-79, 2010.
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Daly, A. F., Lysy, P. A., Desfilles, C., Rostomyan, L., Mohamed, A., Caberg, J.-H., Raverot, V., Castermans, E., Marbaix, E., Maiter, D., Brunelle, C., Trivellin, G., Stratakis, C. A., Bours, V., Raftopoulos, C., Beauloye, V., Barlier, A., Beckers, A.
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<strong>GHRH excess and blockade in X-LAG syndrome.</strong>
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Endocr. Relat. Cancer 23: 161-170, 2016.
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[PubMed: 26671997]
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[Full Text: https://doi.org/10.1530/ERC-15-0478]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Daly, A. F., Yuan, B., Fina, F., Caberg, J.-H., Trivellin, G., Rostomyan, L., de Herder, W. W., Naves, L. A., Metzger, D., Cuny, T., Rabl, W., Shah, N., and 19 others.
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<strong>Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects.</strong>
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Endocr. Relat. Cancer 23: 221-233, 2016.
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[PubMed: 26935837]
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[Full Text: https://doi.org/10.1530/ERC-16-0082]
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<li>
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<p class="mim-text-font">
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Espiner, E. A., Carter, T. A. H., Abbott, G. D., Wrightson, P.
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<strong>Pituitary gigantism in a 31 month old girl: endocrine studies and successful response to hypophysectomy.</strong>
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J. Endocr. Invest. 4: 445-450, 1981.
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[PubMed: 6278015]
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[Full Text: https://doi.org/10.1007/BF03348309]
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<p class="mim-text-font">
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Glasker, S., Vortmeyer, A. O., Lafferty, A. R. A., Hofman, P. L., Li, J., Weil, R. J., Zhuang, Z., Oldfield, E. H.
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<strong>Hereditary pituitary hyperplasia with infantile gigantism.</strong>
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J. Clin. Endocr. Metab. 96: E2078-E2087, 2011. Note: Electronic Article.
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[PubMed: 21976722]
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[Full Text: https://doi.org/10.1210/jc.2011-1401]
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<li>
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<p class="mim-text-font">
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Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others.
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<strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong>
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Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.
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[PubMed: 27245663]
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[Full Text: https://doi.org/10.1186/s40478-016-0328-1]
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<p class="mim-text-font">
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Moran, A., Asa, S. L., Kovacs, K., Horvath, E., Singer, W., Sagman, U., Reubi, J.-C., Wilson, C. B., Larson, R., Pescovitz, O. H.
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<strong>Gigantism due to pituitary mammosomatotroph hyperplasia.</strong>
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New Eng. J. Med. 323: 322-327, 1990.
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[PubMed: 2164153]
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[Full Text: https://doi.org/10.1056/NEJM199008023230507]
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<p class="mim-text-font">
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Naves, L. A., Daly, A. F., Dias, L. A., Yuan, B., Zakir, J. C. O., Barra, G. B., Palmeira, L., Villa, C., Trivellin, G., Junior, A. J., Neto, F. F. C., Liu P., Pellegata, N. S., Stratakis, C. A., Lupski, J. R., Beckers, A.
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<strong>Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome.</strong>
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Endocrine 51: 236-244, 2016.
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[PubMed: 26607152]
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[Full Text: https://doi.org/10.1007/s12020-015-0804-6]
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Rodd, C., Millette, M., Iacovazzo, D., Stiles, C. E., Barry, S., Evanson, J., Albrecht, S., Caswell, R., Bunce, B., Jose, S., Trouillas, J., Roncaroli, F., Sampson, J., Ellard, S., Korbonits, M.
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<strong>Somatic GPR101 duplication causing X-linked acrogigantism (XLAG)--diagnosis and management.</strong>
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J. Clin. Endocr. Metab. 101: 1927-1930, 2016.
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[PubMed: 26982009]
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[Full Text: https://doi.org/10.1210/jc.2015-4366]
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<p class="mim-text-font">
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Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others.
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<strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong>
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New Eng. J. Med. 371: 2363-2374, 2014.
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[PubMed: 25470569]
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[Full Text: https://doi.org/10.1056/NEJMoa1408028]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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Marla J. F. O'Neill - updated : 07/09/2018<br>Marla J. F. O'Neill - updated : 04/27/2016<br>Marla J. F. O'Neill - updated : 4/8/2016
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