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<meta name="keywords" content="C3891556, chromosome xq26 microduplication syndrome, chromosome xq26.3 duplication syndrome, chromosome xq26.3 duplication syndrome, x-linked dominant, disease or syndrome, familial infantile gigantism due to dup(x)q(26), familial infantile gigantism due to xq26 microduplication, gpr101, x-lag (x-linked acrogigantism) due to dup(x)q(26), x-lag (x-linked acrogigantism) due to xq26 microduplication, x-linked acrogigantism, x-linked acrogigantism due to xq26 microduplication, xlag, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of GPR101. X-linked acrogigantism is characterized by acceleration of linear growth in early childhood – in most cases during the first two years of life – due to growth hormone (GH) excess. Most individuals with X-linked acrogigantism present with associated hyperprolactinemia due to a mixed GH- and prolactin-secreting pituitary adenoma with or without associated hyperplasia; less commonly they develop diffuse hyperplasia of the GH- and prolactin-secreting pituitary cells without a pituitary adenoma. Most affected individuals are females. Growth acceleration is the main presenting feature; other frequently observed clinical features include enlargement of hands and feet, coarsening of the facial features, and increased appetite. Neurologic signs or symptoms are rarely present. Untreated X-linked acrogigantism can lead to markedly increased stature, with obvious severe physical and psychological sequelae." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>X-linked acrogigantism due to Xq26 microduplication (Concept Id: C3891556)
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<!--
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UID=856021
|
||
ConceptID=C3891556
|
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-->
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<!--imgCountBooks = 4--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (4)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476671/bin/x-ag-Image004.gif" src-large="/books/NBK476671/bin/x-ag-Image004.jpg" /></a><br /><a href="/books/NBK476671/figure/x-ag.F4/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476671/bin/x-ag-Image003.gif" src-large="/books/NBK476671/bin/x-ag-Image003.jpg" /></a><br /><a href="/books/NBK476671/figure/x-ag.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476671/bin/x-ag-Image001.gif" src-large="/books/NBK476671/bin/x-ag-Image001.jpg" /></a><br /><a href="/books/NBK476671/figure/x-ag.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK476671/bin/x-ag-Image002.gif" src-large="/books/NBK476671/bin/x-ag-Image002.jpg" /></a><br /><a href="/books/NBK476671/figure/x-ag.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">X-linked acrogigantism due to Xq26 microduplication<span class="h1sub">(XLAG)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>856021</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3891556</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CHROMOSOME Xq26 MICRODUPLICATION SYNDROME; Chromosome Xq26.3 duplication syndrome; X-LINKED ACROGIGANTISM</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>X-linked acrogigantism due to Xq26 microduplication (789187001); Chromosome Xq26 microduplication syndrome (789187001); X-LAG (X-linked acrogigantism) due to Xq26 microduplication (789187001)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GPR101 - ID: 83550 - NCBI Gene" href="/gene/83550" class="medgenPMinfo">GPR101</a> (Xq26.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010491" target="_blank">MONDO:0010491</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/300942" target="_blank">300942</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK476671" target="_blank">X-Linked Acrogigantism</a></div><div>X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of GPR101. X-linked acrogigantism is characterized by acceleration of linear growth in early childhood – in most cases during the first two years of life – due to growth hormone (GH) excess. Most individuals with X-linked acrogigantism present with associated hyperprolactinemia due to a mixed GH- and prolactin-secreting pituitary adenoma with or without associated hyperplasia; less commonly they develop diffuse hyperplasia of the GH- and prolactin-secreting pituitary cells without a pituitary adenoma. Most affected individuals are females. Growth acceleration is the main presenting feature; other frequently observed clinical features include enlargement of hands and feet, coarsening of the facial features, and increased appetite. Neurologic signs or symptoms are rarely present. Untreated X-linked acrogigantism can lead to markedly increased stature, with obvious severe physical and psychological sequelae. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK476671#x-ag.Summary" target="NBK476671">Summary</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Diagnosis" target="NBK476671">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Clinical_Characteristics" target="NBK476671">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Genetically_Related_Allelic_Disorde" target="NBK476671">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Differential_Diagnosis" target="NBK476671">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Management" target="NBK476671">Management</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Genetic_Counseling" target="NBK476671">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Resources" target="NBK476671">Resources</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Molecular_Genetics" target="NBK476671">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.References" target="NBK476671">References</a> | <a class="medgenPMinfo" href="/books/NBK476671#x-ag.Chapter_Notes" target="NBK476671">Chapter Notes</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Donato Iacovazzo | Márta Korbonits <a href="/books/NBK476671" target="NBK476671" title="NCBI Bookshelf: X-Linked Acrogigantism">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />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). <a target="_blank" href="http://www.omim.org/entry/300942">http://www.omim.org/entry/300942</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.<br /><br />This rapid growth is caused by an abnormality of the pituitary gland. The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions, including growth. Individuals with X-LAG may have the condition as a result of enlargement (hyperplasia) of the gland or development of a noncancerous tumor in the gland (called a pituitary neuroendocrine tumor or PitNET). Rarely, an affected individual has both pituitary hyperplasia and a pituitary neuroendocrine tumor. The abnormal gland releases excess amounts of growth hormone, a hormone that normally helps direct growth of the body's bones and tissues. The abnormal gland can also release excess amounts of another hormone called prolactin, which helps control the function of the internal reproductive organs (gonads). <br /><br />Some people with X-LAG have additional signs and symptoms such as facial features that are described as coarse; disproportionately large hands or feet (acral enlargement); an increased appetite; and a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. <a target="_blank" href="https://medlineplus.gov/genetics/condition/x-linked-acrogigantism">https://medlineplus.gov/genetics/condition/x-linked-acrogigantism</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_13917"><div><strong>Arthralgia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13917</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003862</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Joint pain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13917">Feature record</a> | <a href="/medgen?term=%22Arthralgia%22%5BClinical%20Features%5D%20OR%2013917%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43213"><div><strong>Body odor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43213</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085595</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A perceived unpleasant smell given off by the body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43213">Feature record</a> | <a href="/medgen?term=%22Body%20odor%22%5BClinical%20Features%5D%20OR%2043213%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45933"><div><strong>Pituitary adenoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45933</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0032000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45933">Feature record</a> | <a href="/medgen?term=%22Pituitary%20adenoma%22%5BClinical%20Features%5D%20OR%2045933%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_87400"><div><strong>Ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87400</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0340279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87400">Feature record</a> | <a href="/medgen?term=%22Ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2087400%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69137"><div><strong>Tall stature</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69137</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0241240</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A height above that which is expected according to age and gender norms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69137">Feature record</a> | <a href="/medgen?term=%22Tall%20stature%22%5BClinical%20Features%5D%20OR%2069137%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1789172"><div><strong>Acral overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1789172</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1735881</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1789172">Feature record</a> | <a href="/medgen?term=%22Acral%20overgrowth%22%5BClinical%20Features%5D%20OR%201789172%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_376550"><div><strong>Overgrowth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376550</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1849265</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/376550">Feature record</a> | <a href="/medgen?term=%22Overgrowth%22%5BClinical%20Features%5D%20OR%20376550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9149"><div><strong>Headache</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9149</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9149">Feature record</a> | <a href="/medgen?term=%22Headache%22%5BClinical%20Features%5D%20OR%209149%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9369"><div><strong>Polyphagia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9369</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020505</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9369">Feature record</a> | <a href="/medgen?term=%22Polyphagia%22%5BClinical%20Features%5D%20OR%209369%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9386"><div><strong>Hypopituitarism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9386</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9386">Feature record</a> | <a href="/medgen?term=%22Hypopituitarism%22%5BClinical%20Features%5D%20OR%209386%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11458"><div><strong>Sleep apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037315</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11458">Feature record</a> | <a href="/medgen?term=%22Sleep%20apnea%22%5BClinical%20Features%5D%20OR%2011458%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20006"><div><strong>Snoring</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20006</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0037384</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20006">Feature record</a> | <a href="/medgen?term=%22Snoring%22%5BClinical%20Features%5D%20OR%2020006%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1702649"><div><strong>Increased circulating prolactin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1702649</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5200994</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1702649">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20prolactin%20concentration%22%5BClinical%20Features%5D%20OR%201702649%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44042"><div><strong>Kyphosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44042</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022821</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Exaggerated anterior convexity of the thoracic vertebral column.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44042">Feature record</a> | <a href="/medgen?term=%22Kyphosis%22%5BClinical%20Features%5D%20OR%2044042%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_154262"><div><strong>Accelerated skeletal maturation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154262</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0545053</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154262">Feature record</a> | <a href="/medgen?term=%22Accelerated%20skeletal%20maturation%22%5BClinical%20Features%5D%20OR%20154262%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_337093"><div><strong>Widely spaced teeth</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337093</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1844813</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased spaces (diastemata) between most of the teeth in the same dental arch.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/337093">Feature record</a> | <a href="/medgen?term=%22Widely%20spaced%20teeth%22%5BClinical%20Features%5D%20OR%20337093%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335284"><div><strong>Coarse facial features</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335284</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1845847</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335284">Feature record</a> | <a href="/medgen?term=%22Coarse%20facial%20features%22%5BClinical%20Features%5D%20OR%20335284%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_54"><div><strong>Acanthosis nigricans</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>54</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0000889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/54">Feature record</a> | <a href="/medgen?term=%22Acanthosis%20nigricans%22%5BClinical%20Features%5D%20OR%2054%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5690"><div><strong>Hyperhidrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5690</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020458</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5690">Feature record</a> | <a href="/medgen?term=%22Hyperhidrosis%22%5BClinical%20Features%5D%20OR%205690%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66732"><div><strong>Elevated circulating growth hormone concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66732</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0235986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66732">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20growth%20hormone%20concentration%22%5BClinical%20Features%5D%20OR%2066732%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_390982"><div><strong>Increased circulating insulin-like growth factor 1 concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390982</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2676198</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/390982">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20insulin-like%20growth%20factor%201%20concentration%22%5BClinical%20Features%5D%20OR%20390982%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9193"><div><strong>Hemianopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9193</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018979</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Partial or complete loss of vision in one half of the visual field of one or both eyes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9193">Feature record</a> | <a href="/medgen?term=%22Hemianopia%22%5BClinical%20Features%5D%20OR%209193%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarse facial features</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_337093" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Widely spaced teeth</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87400" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66732" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating growth hormone concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_390982" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating insulin-like growth factor 1 concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9193" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hemianopia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_54" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acanthosis nigricans</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5690" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperhidrosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_154262" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Accelerated skeletal maturation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kyphosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9149" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Headache</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9386" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopituitarism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1702649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating prolactin concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9369" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyphagia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sleep apnea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Snoring</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arthralgia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43213" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Body odor</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1789172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acral overgrowth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_376550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Overgrowth</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69137" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tall stature</a></span></li></ul></li><li><span class="TLline">Neoplasm</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pituitary adenoma</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27287035">Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangupli R,
|
||
Rostomyan L,
|
||
Castermans E,
|
||
Caberg JH,
|
||
Camperos P,
|
||
Krivoy J,
|
||
Cuauro E,
|
||
Bours V,
|
||
Daly AF,
|
||
Beckers A</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2016 Oct;19(5):507-14.
|
||
doi: 10.1007/s11102-016-0732-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27287035" target="_blank">27287035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26574647">Pituitary gigantism: update on molecular biology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lodish MB,
|
||
Trivellin G,
|
||
Stratakis CA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2016 Feb;23(1):72-80.
|
||
doi: 10.1097/MED.0000000000000212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26574647" target="_blank">26574647</a><a href="/pmc/articles/PMC4727441" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(x-linked%20acrogigantism%20due%20to%20xq26%20microduplication)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27287035">Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mangupli R,
|
||
Rostomyan L,
|
||
Castermans E,
|
||
Caberg JH,
|
||
Camperos P,
|
||
Krivoy J,
|
||
Cuauro E,
|
||
Bours V,
|
||
Daly AF,
|
||
Beckers A</span><br />
|
||
<span class="medgenPMjournal">Pituitary</span>
|
||
2016 Oct;19(5):507-14.
|
||
doi: 10.1007/s11102-016-0732-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27287035" target="_blank">27287035</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26797872">GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castinetti F,
|
||
Daly AF,
|
||
Stratakis CA,
|
||
Caberg JH,
|
||
Castermans E,
|
||
Trivellin G,
|
||
Rostomyan L,
|
||
Saveanu A,
|
||
Jullien N,
|
||
Reynaud R,
|
||
Barlier A,
|
||
Bours V,
|
||
Brue T,
|
||
Beckers A</span><br />
|
||
<span class="medgenPMjournal">Horm Metab Res</span>
|
||
2016 Jun;48(6):389-93.
|
||
Epub 2016 Jan 21
|
||
doi: 10.1055/s-0042-100733.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26797872" target="_blank">26797872</a><a href="/pmc/articles/PMC7566854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26187128">Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rostomyan L,
|
||
Daly AF,
|
||
Petrossians P,
|
||
Nachev E,
|
||
Lila AR,
|
||
Lecoq AL,
|
||
Lecumberri B,
|
||
Trivellin G,
|
||
Salvatori R,
|
||
Moraitis AG,
|
||
Holdaway I,
|
||
Kranenburg-van Klaveren DJ,
|
||
Chiara Zatelli M,
|
||
Palacios N,
|
||
Nozieres C,
|
||
Zacharin M,
|
||
Ebeling T,
|
||
Ojaniemi M,
|
||
Rozhinskaya L,
|
||
Verrua E,
|
||
Jaffrain-Rea ML,
|
||
Filipponi S,
|
||
Gusakova D,
|
||
Pronin V,
|
||
Bertherat J,
|
||
Belaya Z,
|
||
Ilovayskaya I,
|
||
Sahnoun-Fathallah M,
|
||
Sievers C,
|
||
Stalla GK,
|
||
Castermans E,
|
||
Caberg JH,
|
||
Sorkina E,
|
||
Auriemma RS,
|
||
Mittal S,
|
||
Kareva M,
|
||
Lysy PA,
|
||
Emy P,
|
||
De Menis E,
|
||
Choong CS,
|
||
Mantovani G,
|
||
Bours V,
|
||
De Herder W,
|
||
Brue T,
|
||
Barlier A,
|
||
Neggers SJ,
|
||
Zacharieva S,
|
||
Chanson P,
|
||
Shah NS,
|
||
Stratakis CA,
|
||
Naves LA,
|
||
Beckers A</span><br />
|
||
<span class="medgenPMjournal">Endocr Relat Cancer</span>
|
||
2015 Oct;22(5):745-57.
|
||
Epub 2015 Jul 17
|
||
doi: 10.1530/ERC-15-0320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26187128" target="_blank">26187128</a><a href="/pmc/articles/PMC6533620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20acrogigantism%20due%20to%20Xq26%20microduplication%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33049741">A Chinese Case of X-Linked Acrogigantism and Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
|
||
Gong F,
|
||
Liu Z,
|
||
Yang Y,
|
||
Yao Y,
|
||
Wang R,
|
||
Wang L,
|
||
Chen M,
|
||
Pan H,
|
||
Zhu H</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2021;111(12):1164-1175.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1159/000512240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33049741" target="_blank">33049741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31166600">Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wise-Oringer BK,
|
||
Zanazzi GJ,
|
||
Gordon RJ,
|
||
Wardlaw SL,
|
||
William C,
|
||
Anyane-Yeboa K,
|
||
Chung WK,
|
||
Kohn B,
|
||
Wisoff JH,
|
||
David R,
|
||
Oberfield SE</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2019 Oct 1;104(10):4667-4675.
|
||
doi: 10.1210/jc.2019-00817.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31166600" target="_blank">31166600</a><a href="/pmc/articles/PMC6736216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26982009">Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodd C,
|
||
Millette M,
|
||
Iacovazzo D,
|
||
Stiles CE,
|
||
Barry S,
|
||
Evanson J,
|
||
Albrecht S,
|
||
Caswell R,
|
||
Bunce B,
|
||
Jose S,
|
||
Trouillas J,
|
||
Roncaroli F,
|
||
Sampson J,
|
||
Ellard S,
|
||
Korbonits M</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 May;101(5):1927-30.
|
||
Epub 2016 Mar 16
|
||
doi: 10.1210/jc.2015-4366.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26982009" target="_blank">26982009</a><a href="/pmc/articles/PMC4870851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26187128">Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rostomyan L,
|
||
Daly AF,
|
||
Petrossians P,
|
||
Nachev E,
|
||
Lila AR,
|
||
Lecoq AL,
|
||
Lecumberri B,
|
||
Trivellin G,
|
||
Salvatori R,
|
||
Moraitis AG,
|
||
Holdaway I,
|
||
Kranenburg-van Klaveren DJ,
|
||
Chiara Zatelli M,
|
||
Palacios N,
|
||
Nozieres C,
|
||
Zacharin M,
|
||
Ebeling T,
|
||
Ojaniemi M,
|
||
Rozhinskaya L,
|
||
Verrua E,
|
||
Jaffrain-Rea ML,
|
||
Filipponi S,
|
||
Gusakova D,
|
||
Pronin V,
|
||
Bertherat J,
|
||
Belaya Z,
|
||
Ilovayskaya I,
|
||
Sahnoun-Fathallah M,
|
||
Sievers C,
|
||
Stalla GK,
|
||
Castermans E,
|
||
Caberg JH,
|
||
Sorkina E,
|
||
Auriemma RS,
|
||
Mittal S,
|
||
Kareva M,
|
||
Lysy PA,
|
||
Emy P,
|
||
De Menis E,
|
||
Choong CS,
|
||
Mantovani G,
|
||
Bours V,
|
||
De Herder W,
|
||
Brue T,
|
||
Barlier A,
|
||
Neggers SJ,
|
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Zacharieva S,
|
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Chanson P,
|
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Shah NS,
|
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Stratakis CA,
|
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Naves LA,
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Beckers A</span><br />
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2015 Oct;22(5):745-57.
|
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Epub 2015 Jul 17
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/25712922">X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Beckers A,
|
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Lodish MB,
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Trivellin G,
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Rostomyan L,
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Lee M,
|
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Faucz FR,
|
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Yuan B,
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Choong CS,
|
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Caberg JH,
|
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Verrua E,
|
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Naves LA,
|
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Cheetham TD,
|
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Young J,
|
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Lysy PA,
|
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Petrossians P,
|
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Cotterill A,
|
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Shah NS,
|
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Metzger D,
|
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Castermans E,
|
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Ambrosio MR,
|
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Villa C,
|
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Strebkova N,
|
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Mazerkina N,
|
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Gaillard S,
|
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Barra GB,
|
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Casulari LA,
|
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Neggers SJ,
|
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Salvatori R,
|
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Jaffrain-Rea ML,
|
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Zacharin M,
|
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Santamaria BL,
|
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Zacharieva S,
|
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Lim EM,
|
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Mantovani G,
|
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Zatelli MC,
|
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Collins MT,
|
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Bonneville JF,
|
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Quezado M,
|
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Chittiboina P,
|
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Oldfield EH,
|
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Bours V,
|
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Liu P,
|
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W de Herder W,
|
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Pellegata N,
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Lupski JR,
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Daly AF,
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Stratakis CA</span><br />
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<span class="medgenPMjournal">Endocr Relat Cancer</span>
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2015 Jun;22(3):353-67.
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Epub 2015 Feb 24
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<span class="bold">PMID: </span><a href="/pubmed/25712922" target="_blank">25712922</a><a href="/pmc/articles/PMC4433400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20acrogigantism%20due%20to%20Xq26%20microduplication%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/27287035">Combined treatment with octreotide LAR and pegvisomant in patients with pituitary gigantism: clinical evaluation and genetic screening.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mangupli R,
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Rostomyan L,
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Castermans E,
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Caberg JH,
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Camperos P,
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Cuauro E,
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<span class="bold">PMID: </span><a href="/pubmed/27287035" target="_blank">27287035</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26982009">Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodd C,
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Millette M,
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Iacovazzo D,
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Stiles CE,
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Barry S,
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Evanson J,
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Caswell R,
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Bunce B,
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<span class="bold">PMID: </span><a href="/pubmed/26982009" target="_blank">26982009</a><a href="/pmc/articles/PMC4870851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26671997">GHRH excess and blockade in X-LAG syndrome.</a></div>
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Lysy PA,
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Desfilles C,
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Rostomyan L,
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Mohamed A,
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Caberg JH,
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Raverot V,
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Castermans E,
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Marbaix E,
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Maiter D,
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Brunelle C,
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Trivellin G,
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Stratakis CA,
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Bours V,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20acrogigantism%20due%20to%20Xq26%20microduplication%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33049741">A Chinese Case of X-Linked Acrogigantism and Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
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Gong F,
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Liu Z,
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Yang Y,
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Yao Y,
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Wang R,
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Wang L,
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Chen M,
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Pan H,
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Zhu H</span><br />
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<span class="medgenPMjournal">Neuroendocrinology</span>
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2021;111(12):1164-1175.
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Epub 2020 Oct 13
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doi: 10.1159/000512240.
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<span class="bold">PMID: </span><a href="/pubmed/33049741" target="_blank">33049741</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28457479">X-LAG: How did they grow so tall?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beckers A,
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Rostomyan L,
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Potorac I,
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Beckers P,
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Daly AF</span><br />
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2017 Jun;78(2):131-136.
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Epub 2017 Apr 27
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<span class="bold">PMID: </span><a href="/pubmed/28457479" target="_blank">28457479</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27282544">Characterization of GPR101 transcript structure and expression patterns.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Trivellin G,
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Bjelobaba I,
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Daly AF,
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Larco DO,
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Palmeira L,
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Faucz FR,
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Thiry A,
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Leal LF,
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Rostomyan L,
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Quezado M,
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Schernthaner-Reiter MH,
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Janjic MM,
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Villa C,
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Wu TJ,
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Stojilkovic SS,
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<div class="nl"><a target="_blank" href="/pubmed/26187128">Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.</a></div>
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Pronin V,
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Ilovayskaya I,
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Lysy PA,
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De Menis E,
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Mantovani G,
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Bours V,
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Brue T,
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Barlier A,
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Neggers SJ,
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Zacharieva S,
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Chanson P,
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Shah NS,
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Stratakis CA,
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Naves LA,
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Beckers A</span><br />
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<span class="medgenPMjournal">Endocr Relat Cancer</span>
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2015 Oct;22(5):745-57.
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Epub 2015 Jul 17
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doi: 10.1530/ERC-15-0320.
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<span class="bold">PMID: </span><a href="/pubmed/26187128" target="_blank">26187128</a><a href="/pmc/articles/PMC6533620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20acrogigantism%20due%20to%20Xq26%20microduplication%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33049741">A Chinese Case of X-Linked Acrogigantism and Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
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Gong F,
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Liu Z,
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Yang Y,
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Yao Y,
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Wang R,
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Wang L,
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Chen M,
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Pan H,
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Zhu H</span><br />
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<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2021;111(12):1164-1175.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1159/000512240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33049741" target="_blank">33049741</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28457479">X-LAG: How did they grow so tall?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beckers A,
|
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Rostomyan L,
|
||
Potorac I,
|
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Beckers P,
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Daly AF</span><br />
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<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2017 Jun;78(2):131-136.
|
||
Epub 2017 Apr 27
|
||
doi: 10.1016/j.ando.2017.04.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28457479" target="_blank">28457479</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27245663">Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Iacovazzo D,
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Caswell R,
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Vance ML,
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Burren CP,
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Gurlek A,
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Dutta P,
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Choong CS,
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Cheetham T,
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Trouillas J,
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<div class="nl"><a target="_blank" href="/pubmed/25712922">X-linked acrogigantism syndrome: clinical profile and therapeutic responses.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Beckers A,
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Lodish MB,
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Trivellin G,
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Rostomyan L,
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Lee M,
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Faucz FR,
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Yuan B,
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Choong CS,
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Caberg JH,
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Verrua E,
|
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Naves LA,
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Cheetham TD,
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Young J,
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Lysy PA,
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Petrossians P,
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Cotterill A,
|
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Shah NS,
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Metzger D,
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Castermans E,
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Ambrosio MR,
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Villa C,
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Strebkova N,
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Mazerkina N,
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Gaillard S,
|
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Barra GB,
|
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Casulari LA,
|
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Neggers SJ,
|
||
Salvatori R,
|
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Jaffrain-Rea ML,
|
||
Zacharin M,
|
||
Santamaria BL,
|
||
Zacharieva S,
|
||
Lim EM,
|
||
Mantovani G,
|
||
Zatelli MC,
|
||
Collins MT,
|
||
Bonneville JF,
|
||
Quezado M,
|
||
Chittiboina P,
|
||
Oldfield EH,
|
||
Bours V,
|
||
Liu P,
|
||
W de Herder W,
|
||
Pellegata N,
|
||
Lupski JR,
|
||
Daly AF,
|
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Stratakis CA</span><br />
|
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<span class="medgenPMjournal">Endocr Relat Cancer</span>
|
||
2015 Jun;22(3):353-67.
|
||
Epub 2015 Feb 24
|
||
doi: 10.1530/ERC-15-0038.
|
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<span class="bold">PMID: </span><a href="/pubmed/25712922" target="_blank">25712922</a><a href="/pmc/articles/PMC4433400" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25470569">Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Trivellin G,
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Daly AF,
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Faucz FR,
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Yuan B,
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Rostomyan L,
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Larco DO,
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Schernthaner-Reiter MH,
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Szarek E,
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Leal LF,
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Caberg JH,
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Castermans E,
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Villa C,
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Dimopoulos A,
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Chittiboina P,
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Xekouki P,
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Shah N,
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Metzger D,
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Lysy PA,
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Ferrante E,
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Strebkova N,
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Mazerkina N,
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Zatelli MC,
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Lodish M,
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Horvath A,
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de Alexandre RB,
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Levy I,
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Keil MF,
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Georges M,
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Naves LA,
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Jamar M,
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Bours V,
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Wu TJ,
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Choong CS,
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Bertherat J,
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Chanson P,
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Kamenický P,
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Farrell WE,
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Barlier A,
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Quezado M,
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Bjelobaba I,
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Stojilkovic SS,
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Wess J,
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Costanzi S,
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Liu P,
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Lupski JR,
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<span class="bold">PMID: </span><a href="/pubmed/25470569" target="_blank">25470569</a><a href="/pmc/articles/PMC4291174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20acrogigantism%20due%20to%20Xq26%20microduplication%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33049741">A Chinese Case of X-Linked Acrogigantism and Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang H,
|
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Gong F,
|
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Liu Z,
|
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Yang Y,
|
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Yao Y,
|
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Wang R,
|
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Wang L,
|
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Chen M,
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Pan H,
|
||
Zhu H</span><br />
|
||
<span class="medgenPMjournal">Neuroendocrinology</span>
|
||
2021;111(12):1164-1175.
|
||
Epub 2020 Oct 13
|
||
doi: 10.1159/000512240.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33049741" target="_blank">33049741</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22X-linked%20acrogigantism%20due%20to%20Xq26%20microduplication%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3891556%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (4)</a></li>
|
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<li><a href="/gtr/tests?term=C3891556%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
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<li><a href="/gtr/tests?term=C3891556%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3891556%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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