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<meta name="keywords" content="C0271801, central hypothyroidism, central hypothyroidisms, disease or syndrome, hypothyroidism, central, hypothyroidism, secondary, secondary hypothyroidism, secondary hypothyroidisms, 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="A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=488836
|
||
ConceptID=C0271801
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Central hypothyroidism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488836</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:">C0271801</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>Central Hypothyroidism; Central Hypothyroidisms; Hypothyroidism, Central; Hypothyroidism, Secondary; Secondary Hypothyroidism; Secondary Hypothyroidisms</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Central hypothyroidism (26692000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0011787">HP:0011787</a></td></tr>
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||
<div class="portlet_content ln">A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271801[DISCUI]&test_type=Clinical" ref="ncbi_uid=488836">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=488836" ref="ncbi_uid=488836">V</a></span></span><span class="TLline">Central hypothyroidism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/1378579" ref="tree=MeSH" title="MedGen record for Abnormality of the thyroid gland">Abnormality of the thyroid gland</a></span><ul><li><span class="TLline"><a href="/medgen/808233" ref="tree=MeSH" title="MedGen record for Abnormality of thyroid physiology">Abnormality of thyroid physiology</a></span><ul><li><span class="TLline"><a href="/medgen/6991" ref="tree=MeSH" title="MedGen record for Hypothyroidism">Hypothyroidism</a></span><ul><li><span class="matched_ds">Central hypothyroidism</span><ul><li><span class="TLline"><a href="/medgen/889519" ref="tree=MeSH" title="MedGen record for Acquired central hypothyroidism">Acquired central hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/113137" ref="tree=MeSH" title="MedGen record for Hypothalamic hypothyroidism">Hypothalamic hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/1385306" ref="tree=MeSH" title="MedGen record for Iatrogenic Central Hypothyroidism">Iatrogenic Central Hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/777086" ref="tree=MeSH" title="MedGen record for Pituitary hypothyroidism">Pituitary hypothyroidism</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_766784"><div><strong>Seckel syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766784</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.">C3553870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766784">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_813060"><div><strong>X-linked intellectual disability, Cantagrel type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>813060</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.">C3806730</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/813060">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863698"><div><strong>Polyendocrine-polyneuropathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863698</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.">C4015261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic disease with characteristics of childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863698">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_900415"><div><strong>Joubert syndrome 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>900415</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.">C4084843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/900415">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1392054"><div><strong>Intellectual disability, X-linked, syndromic, 35</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1392054</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.">C4478383</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1392054">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684717"><div><strong>Hypothyroidism, congenital, nongoitrous, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684717</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.">C5231395</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital nongoitrous hypothyroidism-8 (CHNG8) is characterized by relatively mild central hypothyroidism, which may be accompanied by hearing loss in some patients (Heinen et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684717">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684807"><div><strong>Hypothyroidism, congenital, nongoitrous, 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684807</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.">C5231396</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nongoitrous congenital hypothyroidism-9 (CHNG9) is characterized by a small thyroid gland with low free T4 (FT4) levels and inappropriately normal levels of thyroid-stimulating hormone (TSH) (Heinen et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684807">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785671"><div><strong>BDV syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785671</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.">C5543403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">BDV syndrome (BDVS) is an autosomal recessive disorder characterized by early-onset profound obesity, hyperphagia, and moderately impaired intellectual development accompanied by infantile hypotonia and other endocrine disorders including hypogonadotropic hypogonadism, hypothyroidism, and insulin resistance (summary by Bosch et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785671">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841013"><div><strong>Neurooculorenal syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841013</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.">C5830377</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurooculorenal syndrome (NORS) is an autosomal recessive developmental disorder with highly variable clinical manifestations involving several organ systems. Some affected individuals present in utero with renal agenesis and structural brain abnormalities incompatible with life, whereas others present in infancy with a neurodevelopmental disorder characterized by global developmental delay and dysmorphic facial features that may be associated with congenital anomalies of the kidney and urinary tract (CAKUT). Additional more variable features may include ocular anomalies, most commonly strabismus, congenital heart defects, and pituitary hormone deficiency. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain. There is variation in the severity, manifestations, and expressivity of the phenotype, even within families (Rasmussen et al., 2018; Munch et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841013">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785671" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">BDV syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684717" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism, congenital, nongoitrous, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684807" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism, congenital, nongoitrous, 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1392054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, X-linked, syndromic, 35</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_900415" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Joubert syndrome 26</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurooculorenal syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyendocrine-polyneuropathy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766784" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seckel syndrome 7</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_813060" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked intellectual disability, Cantagrel type</a></div></span></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/36335838">Expanding the Genotype and Phenotype of SETD5-Related Neurodevelopmental Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ahsan N,
|
||
Desai A,
|
||
Siddiqui O,
|
||
Powers K</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Jan;138:25-26.
|
||
Epub 2022 Oct 6
|
||
doi: 10.1016/j.pediatrneurol.2022.10.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36335838" target="_blank">36335838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34211436">Thyroid Function in Preterm/Low Birth Weight Infants: Impact on Diagnosis and Management of Thyroid Dysfunction.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">LaFranchi SH</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:666207.
|
||
Epub 2021 Jun 15
|
||
doi: 10.3389/fendo.2021.666207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34211436" target="_blank">34211436</a><a href="/pmc/articles/PMC8239410" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33272083">Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Trotsenburg P,
|
||
Stoupa A,
|
||
Léger J,
|
||
Rohrer T,
|
||
Peters C,
|
||
Fugazzola L,
|
||
Cassio A,
|
||
Heinrichs C,
|
||
Beauloye V,
|
||
Pohlenz J,
|
||
Rodien P,
|
||
Coutant R,
|
||
Szinnai G,
|
||
Murray P,
|
||
Bartés B,
|
||
Luton D,
|
||
Salerno M,
|
||
de Sanctis L,
|
||
Vigone M,
|
||
Krude H,
|
||
Persani L,
|
||
Polak M</span><br />
|
||
<span class="medgenPMjournal">Thyroid</span>
|
||
2021 Mar;31(3):387-419.
|
||
doi: 10.1089/thy.2020.0333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33272083" target="_blank">33272083</a><a href="/pmc/articles/PMC8001676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22central%20hypothyroidism%22%5Btiab%3A~0%5D)%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 (46)</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/39001874">Pituitary Complications of Checkpoint Inhibitor Use.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chamorro-Pareja N,
|
||
Faje AT,
|
||
Miller KK</span><br />
|
||
<span class="medgenPMjournal">Endocrinology</span>
|
||
2024 Jul 26;165(9)
|
||
doi: 10.1210/endocr/bqae084.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39001874" target="_blank">39001874</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36974195">Treating Hypopituitarism in the Over 65s: Review of Clinical Studies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paragliola RM,
|
||
Locantore P,
|
||
Corsello SM,
|
||
Salvatori R</span><br />
|
||
<span class="medgenPMjournal">Clin Interv Aging</span>
|
||
2023;18:423-439.
|
||
Epub 2023 Mar 21
|
||
doi: 10.2147/CIA.S370782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36974195" target="_blank">36974195</a><a href="/pmc/articles/PMC10039666" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35150573">Approach to the Patient With Prader-Willi Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Höybye C,
|
||
Tauber M</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 May 17;107(6):1698-1705.
|
||
doi: 10.1210/clinem/dgac082.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35150573" target="_blank">35150573</a><a href="/pmc/articles/PMC9635059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33272083">Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Trotsenburg P,
|
||
Stoupa A,
|
||
Léger J,
|
||
Rohrer T,
|
||
Peters C,
|
||
Fugazzola L,
|
||
Cassio A,
|
||
Heinrichs C,
|
||
Beauloye V,
|
||
Pohlenz J,
|
||
Rodien P,
|
||
Coutant R,
|
||
Szinnai G,
|
||
Murray P,
|
||
Bartés B,
|
||
Luton D,
|
||
Salerno M,
|
||
de Sanctis L,
|
||
Vigone M,
|
||
Krude H,
|
||
Persani L,
|
||
Polak M</span><br />
|
||
<span class="medgenPMjournal">Thyroid</span>
|
||
2021 Mar;31(3):387-419.
|
||
doi: 10.1089/thy.2020.0333.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33272083" target="_blank">33272083</a><a href="/pmc/articles/PMC8001676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22191793">Overt and subclinical hypothyroidism: who to treat and how.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khandelwal D,
|
||
Tandon N</span><br />
|
||
<span class="medgenPMjournal">Drugs</span>
|
||
2012 Jan 1;72(1):17-33.
|
||
doi: 10.2165/11598070-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22191793" target="_blank">22191793</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypothyroidism%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 (243)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39072866">Paediatric thyroid disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cheetham T,
|
||
Wood C</span><br />
|
||
<span class="medgenPMjournal">Clin Endocrinol (Oxf)</span>
|
||
2024 Sep;101(3):223-233.
|
||
Epub 2024 Jul 29
|
||
doi: 10.1111/cen.15110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39072866" target="_blank">39072866</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38735295">Hypopituitarism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fleseriu M,
|
||
Christ-Crain M,
|
||
Langlois F,
|
||
Gadelha M,
|
||
Melmed S</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2024 Jun 15;403(10444):2632-2648.
|
||
Epub 2024 May 9
|
||
doi: 10.1016/S0140-6736(24)00342-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38735295" target="_blank">38735295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36827523">Congenital Hypothyroidism: Screening and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose SR,
|
||
Wassner AJ,
|
||
Wintergerst KA,
|
||
Yayah-Jones NH,
|
||
Hopkin RJ,
|
||
Chuang J,
|
||
Smith JR,
|
||
Abell K,
|
||
LaFranchi SH;
|
||
SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE;
|
||
COUNCIL ON GENETICS EXECUTIVE COMMITTEE</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2023 Jan 1;151(1)
|
||
doi: 10.1542/peds.2022-060419.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36827523" target="_blank">36827523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33808529">Cushing's Syndrome Effects on the Thyroid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paragliola RM,
|
||
Corsello A,
|
||
Papi G,
|
||
Pontecorvi A,
|
||
Corsello SM</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2021 Mar 19;22(6)
|
||
doi: 10.3390/ijms22063131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33808529" target="_blank">33808529</a><a href="/pmc/articles/PMC8003177" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/33272083">Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.</a></div>
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Stoupa A,
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Rohrer T,
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Fugazzola L,
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Cassio A,
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Heinrichs C,
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Beauloye V,
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Pohlenz J,
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Szinnai G,
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Murray P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypothyroidism%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 (390)</a></div><h3 class="subhead">Therapy</h3>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypothyroidism%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 (240)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34059248">Diagnosis and Management of Cutaneous Lymphomas Including Cutaneous T-cell Lymphoma.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zic JA</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/33272083">Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van Trotsenburg P,
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Stoupa A,
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Léger J,
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Rohrer T,
|
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Peters C,
|
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Fugazzola L,
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Cassio A,
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Heinrichs C,
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Beauloye V,
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Pohlenz J,
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Rodien P,
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Coutant R,
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Szinnai G,
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Murray P,
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Bartés B,
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Luton D,
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Salerno M,
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de Sanctis L,
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Vigone M,
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Krude H,
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Persani L,
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Polak M</span><br />
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<span class="medgenPMjournal">Thyroid</span>
|
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2021 Mar;31(3):387-419.
|
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doi: 10.1089/thy.2020.0333.
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<span class="bold">PMID: </span><a href="/pubmed/33272083" target="_blank">33272083</a><a href="/pmc/articles/PMC8001676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/30734891">Evaluation and management of the child with hypothyroidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Leung AKC,
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Leung AAC</span><br />
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<span class="medgenPMjournal">World J Pediatr</span>
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2019 Apr;15(2):124-134.
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<span class="bold">PMID: </span><a href="/pubmed/30734891" target="_blank">30734891</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypothyroidism%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 (126)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36814580">Hypothyroidism: The difficulty in attributing symptoms to their underlying cause.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jansen HI,
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|
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<div class="nl"><a target="_blank" href="/pubmed/33272083">Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van Trotsenburg P,
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Stoupa A,
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Léger J,
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Rohrer T,
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Peters C,
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Fugazzola L,
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Cassio A,
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Heinrichs C,
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Beauloye V,
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Pohlenz J,
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Rodien P,
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Coutant R,
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Szinnai G,
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Murray P,
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Bartés B,
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Luton D,
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Salerno M,
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de Sanctis L,
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Vigone M,
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Krude H,
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Persani L,
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Polak M</span><br />
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<span class="medgenPMjournal">Thyroid</span>
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2021 Mar;31(3):387-419.
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<span class="bold">PMID: </span><a href="/pubmed/33272083" target="_blank">33272083</a><a href="/pmc/articles/PMC8001676" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25311104">Pituitary image: pituicytoma.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25086165">Hypothyroidism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Diaz A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypothyroidism%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 (164)</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_104">
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||
<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/39542401">Clinical Features and Hormonal Profile of Macroprolactinomas Presenting With the Hook Effect: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mahmoud MM,
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Haj-Ahmad LM,
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Sweis NWG,
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Nsour OA,
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Al-Ani AT,
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Oran O,
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Khlefat O,
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Aqel A,
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Zayed AA</span><br />
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2025 Feb;31(2):215-225.
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<span class="bold">PMID: </span><a href="/pubmed/39542401" target="_blank">39542401</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/37269265">Central Endocrine Complications Among Childhood Cancer Survivors Treated With Radiation Therapy: A PENTEC Comprehensive Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wheeler G,
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Grassberger C,
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Samers J,
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Dwyer M,
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Wiltshire K,
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Daly P,
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Alvarez B,
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Campbell BA,
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Kerr AJ,
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Kron T,
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Duane FK,
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Zacharin M,
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Downie P,
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Kyriakou E,
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Ronckers CM,
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<span class="medgenPMjournal">Int J Radiat Oncol Biol Phys</span>
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2024 Jun 1;119(2):457-466.
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<span class="bold">PMID: </span><a href="/pubmed/37269265" target="_blank">37269265</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35851929">Giant prolactinoma in children and adolescents: a single-center experience and systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kumar S,
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Sarathi V,
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Lila AR,
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Sehemby M,
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Memon SS,
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Karlekar M,
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Sankhe S,
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Patil VA,
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<span class="medgenPMjournal">Pituitary</span>
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2022 Dec;25(6):819-830.
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||
Epub 2022 Jul 18
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/35851929" target="_blank">35851929</a></div>
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||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35644830">Side effects of long-term oral anti-seizure drugs on thyroid hormones in patients with epilepsy: a systematic review and network meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Han Y,
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Yang J,
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Zhong R,
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Guo X,
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Cai M,
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||
Lin W</span><br />
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<span class="medgenPMjournal">Neurol Sci</span>
|
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2022 Sep;43(9):5217-5227.
|
||
Epub 2022 May 30
|
||
doi: 10.1007/s10072-022-06120-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35644830" target="_blank">35644830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31961799">Cognitive outcome in congenital central hypothyroidism: a systematic review with meta-analysis of individual patient data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Naafs JC,
|
||
Vendrig LM,
|
||
Limpens J,
|
||
van der Lee HJ,
|
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Duijnhoven RG,
|
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Marchal JP,
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van Trotsenburg AS,
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<span class="medgenPMjournal">Eur J Endocrinol</span>
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2020 Mar;182(3):351-361.
|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/31961799" target="_blank">31961799</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Central%20hypothyroidism%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0271801%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0271801%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0271801%5bDISCUI%5d" target="_blank">See all (5)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Central%20hypothyroidism" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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