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<meta name="keywords" content="C0010308, congenital goiter, congenital goitre, congenital hypothyroidism, congenital hypothyroidism not due to iodine deficiency, congenital iodine deficiency syndrome, cretinism, disease or syndrome, fetal iodine deficiency syndrome, foetal iodine deficiency syndrome, hypothyroidism, congenital, infantile hypothyroidism, underactive thyroid gland from birth, 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="Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=41344
|
||
ConceptID=C0010308
|
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-->
|
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital hypothyroidism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41344</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.">C0010308</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>Congenital Hypothyroidism; Cretinism; Hypothyroidism, Congenital</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Congenital hypothyroidism (190268003); Congenital goiter (217710005); Cretinism (217710005); Congenital hypothyroidism not due to iodine deficiency (217710005); Infantile hypothyroidism (217710005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/389434">IYD</a>, <a target="_blank" href="/gene/50506">DUOX2</a>, <a target="_blank" href="/gene/7849">PAX8</a>, <a target="_blank" href="/gene/7253">TSHR</a>, <a target="_blank" href="/gene/7252">TSHB</a>, <a target="_blank" href="/gene/7173">TPO</a></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:0000851">HP:0000851</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018612" target="_blank">MONDO:0018612</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=442">ORPHA442</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>
|
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<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.<br /><br />Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.<br /><br />Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.<br /><br />Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=C0010308[DISCUI]&test_type=Clinical" ref="ncbi_uid=41344">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=41344" ref="ncbi_uid=41344">V</a></span></span><span class="TLline">Congenital hypothyroidism</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1291299[DISCUI]&test_type=Clinical" ref="ncbi_uid=226940">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=226940" target="_blank" href="/omim/274500">O</a></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=226940" ref="ncbi_uid=226940">V</a></span></span><span class="TLline"><a href="/medgen/226940" ref="tree=GTR&ncbi_uid=226940&link_uid=226940" title="View MedGen record for 'Deficiency of iodide peroxidase'">Deficiency of iodide peroxidase</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3493776[DISCUI]&test_type=Clinical" ref="ncbi_uid=487729">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=487729" target="_blank" href="/omim/275200">O</a></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=487729" ref="ncbi_uid=487729">V</a></span></span><span class="TLline"><a href="/medgen/487729" ref="tree=GTR&ncbi_uid=487729&link_uid=487729" title="View MedGen record for 'Hypothyroidism due to TSH receptor mutations'">Hypothyroidism due to TSH receptor mutations</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1869118[DISCUI]&test_type=Clinical" ref="ncbi_uid=358389">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358389" target="_blank" href="/omim/167415">O</a></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=358389" ref="ncbi_uid=358389">V</a></span></span><span class="TLline"><a href="/medgen/358389" ref="tree=GTR&ncbi_uid=358389&link_uid=358389" title="View MedGen record for 'Hypothyroidism, congenital, nongoitrous, 2'">Hypothyroidism, congenital, nongoitrous, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342195[DISCUI]&test_type=Clinical" ref="ncbi_uid=87429">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87429" target="_blank" href="/omim/274800">O</a></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=87429" ref="ncbi_uid=87429">V</a></span></span><span class="TLline"><a href="/medgen/87429" ref="tree=GTR&ncbi_uid=87429&link_uid=87429" title="View MedGen record for 'Iodotyrosine deiodination defect'">Iodotyrosine deiodination defect</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0271789[DISCUI]&test_type=Clinical" ref="ncbi_uid=78786">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78786" target="_blank" href="/omim/188540">O</a></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=78786" ref="ncbi_uid=78786">V</a></span></span><span class="TLline"><a href="/medgen/78786" ref="tree=GTR&ncbi_uid=78786&link_uid=78786" title="View MedGen record for 'Isolated thyroid-stimulating hormone deficiency'">Isolated thyroid-stimulating hormone deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846632[DISCUI]&test_type=Clinical" ref="ncbi_uid=375935">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375935" target="_blank" href="/omim/606759">O</a></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=375935" ref="ncbi_uid=375935">V</a></span></span><span class="TLline"><a href="/medgen/375935" ref="tree=GTR&ncbi_uid=375935&link_uid=375935" title="View MedGen record for 'Thyroid dyshormonogenesis 6'">Thyroid dyshormonogenesis 6</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/14183" ref="tree=MeSH" title="MedGen record for Bone Diseases, Endocrine">Bone Diseases, Endocrine</a></span><ul><li><span class="matched_ds">Congenital hypothyroidism</span><ul><li><span class="TLline"><a href="/medgen/90972" ref="tree=MeSH" title="MedGen record for Congenital hypothyroidism with ectopic thyroid">Congenital hypothyroidism with ectopic thyroid</a></span></li><li><span class="TLline"><a href="/medgen/760558" ref="tree=MeSH" title="MedGen record for Congenital iodine deficiency syndrome">Congenital iodine deficiency syndrome</a></span></li><li><span class="TLline"><a href="/medgen/226940" ref="tree=MeSH" title="MedGen record for Deficiency of iodide peroxidase">Deficiency of iodide peroxidase</a></span></li><li><span class="TLline"><a href="/medgen/887085" ref="tree=MeSH" title="MedGen record for Dual Oxidase 2 Deficiency">Dual Oxidase 2 Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1670118" ref="tree=MeSH" title="MedGen record for Genetic transient congenital hypothyroidism">Genetic transient congenital hypothyroidism</a></span></li><li><span class="TLline"><a href="/medgen/124412" ref="tree=MeSH" title="MedGen record for Hypothyroidism due to iodide transport defect">Hypothyroidism due to iodide transport defect</a></span></li><li><span class="TLline"><a href="/medgen/487729" ref="tree=MeSH" title="MedGen record for Hypothyroidism due to TSH receptor mutations">Hypothyroidism due to TSH receptor mutations</a></span></li><li><span class="TLline"><a href="/medgen/358389" ref="tree=MeSH" title="MedGen record for Hypothyroidism, congenital, nongoitrous, 2">Hypothyroidism, congenital, nongoitrous, 2</a></span></li><li><span class="TLline"><a href="/medgen/87429" ref="tree=MeSH" title="MedGen record for Iodotyrosine deiodination defect">Iodotyrosine deiodination defect</a></span></li><li><span class="TLline"><a href="/medgen/78786" ref="tree=MeSH" title="MedGen record for Isolated thyroid-stimulating hormone deficiency">Isolated thyroid-stimulating hormone deficiency</a></span></li><li><span class="TLline"><a href="/medgen/82890" ref="tree=MeSH" title="MedGen record for Pendred syndrome">Pendred syndrome</a></span></li><li><span class="TLline"><a href="/medgen/883095" ref="tree=MeSH" title="MedGen record for Thyroglobulin Deficiency">Thyroglobulin Deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1383394" ref="tree=MeSH" title="MedGen record for Defective Thyroglobulin Synthesis">Defective Thyroglobulin Synthesis</a></span></li><li><span class="TLline"><a href="/medgen/1372805" ref="tree=MeSH" title="MedGen record for Defective Thyroglobulin Transport">Defective Thyroglobulin Transport</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/574883" ref="tree=MeSH" title="MedGen record for Thyroid dyshormonogenesis">Thyroid dyshormonogenesis</a></span></li><li><span class="TLline"><a href="/medgen/375935" ref="tree=MeSH" title="MedGen record for Thyroid dyshormonogenesis 6">Thyroid dyshormonogenesis 6</a></span></li></ul></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">
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<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>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_83336"><div><strong>Fetal iodine deficiency disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83336</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.">C0342200</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/83336">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162897"><div><strong>Kabuki syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162897</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.">C0796004</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild-to-moderate intellectual disability, and postnatal growth deficiency. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. Functional differences can include: increased susceptibility to infections and autoimmune disorders, seizures, endocrinologic abnormalities (including isolated premature thelarche in females), feeding problems, and hearing loss.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162897">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_266247"><div><strong>Sponastrime dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>266247</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.">C1300260</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/266247">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_316973"><div><strong>Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>316973</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.">C1832362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/316973">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_334629"><div><strong>Chromosome 1p36 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334629</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.">C1842870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/334629">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_375935"><div><strong>Thyroid dyshormonogenesis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375935</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.">C1846632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/375935">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_376231"><div><strong>PHACE syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376231</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.">C1847874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/376231">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343420"><div><strong>Bamforth-Lazarus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343420</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.">C1855794</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/343420">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_347541"><div><strong>Neonatal diabetes mellitus with congenital hypothyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347541</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.">C1857775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome is characterized by intrauterine growth retardation and onset of nonimmune diabetes mellitus within the first few weeks of life. Other features include renal parenchymal disease, primarily renal cystic dysplasia, and hepatic disease, with hepatitis in some patients and hepatic fibrosis and cirrhosis in others. Facial dysmorphism, when present, consistently involves low-set ears, epicanthal folds, flat nasal bridge, long philtrum, and thin upper lip. Most patients exhibit developmental delay (Dimitri et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/347541">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_358389"><div><strong>Hypothyroidism, congenital, nongoitrous, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358389</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.">C1869118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism.\n\nCongenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.\n\nSigns and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally.\n\nCongenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/358389">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_369694"><div><strong>Brain-lung-thyroid syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369694</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.">C1970269</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">NKX2-1-related disorders range from benign hereditary chorea (BHC) to choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome (also known as brain-lung-thyroid syndrome). Childhood-onset chorea, the hallmark feature of NKX2-1-related disorders, may or may not be associated with pulmonary disease or congenital hypothyroidism. Age of onset of chorea varies from early infancy (most commonly) to late childhood or adolescence and may progress into the second decade, after which it remains static or (rarely) remits. Pulmonary disease, the second most common manifestation, can include respiratory distress syndrome in neonates, interstitial lung disease in young children, and pulmonary fibrosis in older individuals. The risk for pulmonary carcinoma is increased in young adults with NKX2-1-related disorders. Thyroid dysfunction, occurring as a result of thyroid dysgenesis, can present as congenital or compensated hypothyroidism. In one review, 50% of affected individuals had the full brain-lung-thyroid syndrome, 30% had brain and thyroid involvement only, and 13% had chorea only.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/369694">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_388687"><div><strong>Hypothyroidism, congenital, nongoitrous, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>388687</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.">C2673630</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/388687">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_477858"><div><strong>Acrodysostosis 1 with or without hormone resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>477858</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.">C3276228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/477858">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482447"><div><strong>Congenital nongoitrous hypothyroidism 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482447</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.">C3280817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482447">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766164"><div><strong>Acrodysostosis 2 with or without hormone resistance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766164</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.">C3553250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766164">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766501"><div><strong>Glucocorticoid deficiency 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766501</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.">C3553587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial glucocorticoid deficiency (GCCD) is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766501">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934741"><div><strong>Intellectual disability, autosomal dominant 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934741</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.">C4310774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">GNB1 encephalopathy (GNB1-E) is characterized by moderate-to-severe developmental delay / intellectual disability, structural brain abnormalities, and often infantile hypotonia and seizures. Other less common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934741">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1380260"><div><strong>Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1380260</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.">C4479631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profoundly impaired intellectual development and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1380260">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632676"><div><strong>Chromosome 1p35 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632676</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.">C4693669</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/1632676">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794230"><div><strong>Galloway-Mowat syndrome 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794230</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.">C5562020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Galloway-Mowat syndrome-10 (GAMOS10) is a severe autosomal recessive disorder characterized by onset of symptoms soon after birth. Affected individuals have progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis (DMS) on renal biopsy. Other features include global developmental delay, microcephaly, hypothyroidism, arachnodactyly, and dysmorphic facial features. Some patients may have seizures or abnormalities on brain imaging. All reported patients have died in infancy (summary by Arrondel et al., 2019 and Schmidt et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794230">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1830104"><div><strong>Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1830104</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.">C5680310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH) is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities. Additional features may include developmental delay, impaired intellectual development, and growth failure/retardation (summary by Cuvertino et al., 2020 and Baldridge et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1830104">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_477858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrodysostosis 1 with or without hormone resistance</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrodysostosis 2 with or without hormone resistance</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_316973" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bamforth-Lazarus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brain-lung-thyroid syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1830104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632676" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p35 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p36 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482447" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital nongoitrous hypothyroidism 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83336" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal iodine deficiency disorder</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Galloway-Mowat syndrome 10</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766501" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism, congenital, nongoitrous, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_388687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothyroidism, congenital, nongoitrous, 5</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 42</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kabuki syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347541" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal diabetes mellitus with congenital hypothyroidism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1380260" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376231" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PHACE syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_266247" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sponastrime dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_375935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyroid dyshormonogenesis 6</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/35370986">Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klosinska M,
|
||
Kaczynska A,
|
||
Ben-Skowronek I</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:860862.
|
||
Epub 2022 Mar 18
|
||
doi: 10.3389/fendo.2022.860862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35370986" target="_blank">35370986</a><a href="/pmc/articles/PMC8972126" 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/28534114">Pediatric Hypothyroidism: Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2017 Aug;19(4):291-301.
|
||
doi: 10.1007/s40272-017-0238-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28534114" target="_blank">28534114</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%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 (562)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.nice.org.uk/guidance/ng145" target="_blank">UK NICE Guideline NG145, Thyroid disease: assessment and management, 2023</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Congenital-Hypothyroidism-Transition.pdf" target="_blank">American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Congenital Hypothyroidism, 2012</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/TSH-Algorithm.pdf" target="_blank">American College of Medical Genetics Algorithm, Congenital Hypothyroidism (TSH), 2009</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/T4-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2009</a></h3>
|
||
</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/33400193">Genetics of primary congenital hypothyroidism-a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kostopoulou E,
|
||
Miliordos K,
|
||
Spiliotis B</span><br />
|
||
<span class="medgenPMjournal">Hormones (Athens)</span>
|
||
2021 Jun;20(2):225-236.
|
||
Epub 2021 Jan 5
|
||
doi: 10.1007/s42000-020-00267-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33400193" target="_blank">33400193</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31894080">Thyroid Function During the Fetal and Neonatal Periods.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eng L,
|
||
Lam L</span><br />
|
||
<span class="medgenPMjournal">Neoreviews</span>
|
||
2020 Jan;21(1):e30-e36.
|
||
doi: 10.1542/neo.21-1-e30.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31894080" target="_blank">31894080</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405999">Congenital Hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Mar;45(1):1-18.
|
||
doi: 10.1016/j.clp.2017.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405999" target="_blank">29405999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20172469">Cretinism revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen ZP,
|
||
Hetzel BS</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2010 Feb;24(1):39-50.
|
||
doi: 10.1016/j.beem.2009.08.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20172469" target="_blank">20172469</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18536892">Congenital hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain V,
|
||
Agarwal R,
|
||
Deorari AK,
|
||
Paul VK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2008 Apr;75(4):363-7.
|
||
Epub 2008 May 18
|
||
doi: 10.1007/s12098-008-0040-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18536892" target="_blank">18536892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%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 (1297)</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/35370986">Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klosinska M,
|
||
Kaczynska A,
|
||
Ben-Skowronek I</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:860862.
|
||
Epub 2022 Mar 18
|
||
doi: 10.3389/fendo.2022.860862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35370986" target="_blank">35370986</a><a href="/pmc/articles/PMC8972126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34845088">Congenital Hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brady J,
|
||
Cannupp A,
|
||
Myers J,
|
||
Jnah AJ</span><br />
|
||
<span class="medgenPMjournal">Neonatal Netw</span>
|
||
2021 Nov 1;40(6):377-385.
|
||
doi: 10.1891/11-T-699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34845088" target="_blank">34845088</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31577260">Hypothyroidism and hyperthyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guerri G,
|
||
Bressan S,
|
||
Sartori M,
|
||
Costantini A,
|
||
Benedetti S,
|
||
Agostini F,
|
||
Tezzele S,
|
||
Cecchin S,
|
||
Scaramuzza A,
|
||
Bertelli M</span><br />
|
||
<span class="medgenPMjournal">Acta Biomed</span>
|
||
2019 Sep 30;90(10-S):83-86.
|
||
doi: 10.23750/abm.v90i10-S.8765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31577260" target="_blank">31577260</a><a href="/pmc/articles/PMC7233645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405999">Congenital Hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Mar;45(1):1-18.
|
||
doi: 10.1016/j.clp.2017.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405999" target="_blank">29405999</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%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 (2032)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35370986">Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klosinska M,
|
||
Kaczynska A,
|
||
Ben-Skowronek I</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2022;13:860862.
|
||
Epub 2022 Mar 18
|
||
doi: 10.3389/fendo.2022.860862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35370986" target="_blank">35370986</a><a href="/pmc/articles/PMC8972126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31789720">Update on congenital hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cherella CE,
|
||
Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Endocrinol Diabetes Obes</span>
|
||
2020 Feb;27(1):63-69.
|
||
doi: 10.1097/MED.0000000000000520.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31789720" target="_blank">31789720</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29804102">Congenital hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiess W,
|
||
Penke M,
|
||
Gesing J,
|
||
Stoltze A,
|
||
Körner A,
|
||
Pfäffle R,
|
||
Kratzsch J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2018 Jun 27;31(6):595-596.
|
||
doi: 10.1515/jpem-2018-0197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29804102" target="_blank">29804102</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29405999">Congenital Hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
2018 Mar;45(1):1-18.
|
||
doi: 10.1016/j.clp.2017.10.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29405999" target="_blank">29405999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18536892">Congenital hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain V,
|
||
Agarwal R,
|
||
Deorari AK,
|
||
Paul VK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2008 Apr;75(4):363-7.
|
||
Epub 2008 May 18
|
||
doi: 10.1007/s12098-008-0040-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18536892" target="_blank">18536892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%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 (968)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35588090">MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters C,
|
||
Schoenmakers N</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2022 Jun 20;187(2):R1-R16.
|
||
doi: 10.1530/EJE-21-1278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35588090" target="_blank">35588090</a><a href="/pmc/articles/PMC9254299" 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/28648504">Disorders of thyroid morphogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu-Khudir R,
|
||
Larrivée-Vanier S,
|
||
Wasserman JD,
|
||
Deladoëy J</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2017 Mar;31(2):143-159.
|
||
Epub 2017 Apr 21
|
||
doi: 10.1016/j.beem.2017.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28648504" target="_blank">28648504</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28534114">Pediatric Hypothyroidism: Diagnosis and Treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wassner AJ</span><br />
|
||
<span class="medgenPMjournal">Paediatr Drugs</span>
|
||
2017 Aug;19(4):291-301.
|
||
doi: 10.1007/s40272-017-0238-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28534114" target="_blank">28534114</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18536892">Congenital hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain V,
|
||
Agarwal R,
|
||
Deorari AK,
|
||
Paul VK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2008 Apr;75(4):363-7.
|
||
Epub 2008 May 18
|
||
doi: 10.1007/s12098-008-0040-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18536892" target="_blank">18536892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%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 (806)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35588090">MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters C,
|
||
Schoenmakers N</span><br />
|
||
<span class="medgenPMjournal">Eur J Endocrinol</span>
|
||
2022 Jun 20;187(2):R1-R16.
|
||
doi: 10.1530/EJE-21-1278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35588090" target="_blank">35588090</a><a href="/pmc/articles/PMC9254299" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34539567">Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long W,
|
||
Guo F,
|
||
Yao R,
|
||
Wang Y,
|
||
Wang H,
|
||
Yu B,
|
||
Xue P</span><br />
|
||
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
|
||
2021;12:705773.
|
||
Epub 2021 Sep 3
|
||
doi: 10.3389/fendo.2021.705773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34539567" target="_blank">34539567</a><a href="/pmc/articles/PMC8446595" 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,
|
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de Sanctis L,
|
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Vigone M,
|
||
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>
|
||
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/25086165">Hypothyroidism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Diaz A,
|
||
Lipman Diaz EG</span><br />
|
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<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2014 Aug;35(8):336-47; quiz 348-9.
|
||
doi: 10.1542/pir.35-8-336.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25086165" target="_blank">25086165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17684387">Familial forms of thyroid dysgenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Castanet M,
|
||
Polak M,
|
||
Léger J</span><br />
|
||
<span class="medgenPMjournal">Endocr Dev</span>
|
||
2007;10:15-28.
|
||
doi: 10.1159/000106817.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17684387" target="_blank">17684387</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%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 (790)</a></div></div>
|
||
</div>
|
||
|
||
<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/37071175">Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu L,
|
||
He W,
|
||
Zhu J,
|
||
Deng K,
|
||
Tan H,
|
||
Xiang L,
|
||
Yuan X,
|
||
Li Q,
|
||
Huang M,
|
||
Guo Y,
|
||
Yao Y,
|
||
Li X</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2023 Jul;182(7):2957-2965.
|
||
Epub 2023 Apr 18
|
||
doi: 10.1007/s00431-023-04932-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37071175" target="_blank">37071175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34919466">Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Da DZ,
|
||
Wang Y,
|
||
Wang M,
|
||
Long Z,
|
||
Wang Q,
|
||
Liu J</span><br />
|
||
<span class="medgenPMjournal">Inquiry</span>
|
||
2021 Jan-Dec;58:469580211067943.
|
||
doi: 10.1177/00469580211067943.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34919466" target="_blank">34919466</a><a href="/pmc/articles/PMC8721697" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23698639">The molecular causes of thyroid dysgenesis: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nettore IC,
|
||
Cacace V,
|
||
De Fusco C,
|
||
Colao A,
|
||
Macchia PE</span><br />
|
||
<span class="medgenPMjournal">J Endocrinol Invest</span>
|
||
2013 Sep;36(8):654-64.
|
||
Epub 2013 May 22
|
||
doi: 10.3275/8973.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23698639" target="_blank">23698639</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11980555">Starting dose of levothyroxine for the treatment of congenital hypothyroidism: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hrytsiuk I,
|
||
Gilbert R,
|
||
Logan S,
|
||
Pindoria S,
|
||
Brook CG</span><br />
|
||
<span class="medgenPMjournal">Arch Pediatr Adolesc Med</span>
|
||
2002 May;156(5):485-91.
|
||
doi: 10.1001/archpedi.156.5.485.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11980555" target="_blank">11980555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10796152">Maternal iodine supplements in areas of deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahomed K,
|
||
Gülmezoglu AM</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2000;(2):CD000135.
|
||
doi: 10.1002/14651858.CD000135.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10796152" target="_blank">10796152</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%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 (26)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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|
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<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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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=C0010308%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010308%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010308%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010308%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010308%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=C0010308%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=442" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20hypothyroidism" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22congenital%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Congenital%20hypothyroidism%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.nice.org.uk/guidance/ng145">NICE, 2023</a><div>UK NICE Guideline NG145, Thyroid disease: assessment and management, 2023</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Congenital-Hypothyroidism-Transition.pdf">ACMG ACT, 2012</a><div>American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Congenital Hypothyroidism, 2012</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/TSH-Algorithm.pdf">ACMG Algorithm, 2009</a><div>American College of Medical Genetics Algorithm, Congenital Hypothyroidism (TSH), 2009</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/T4-Algorithm.pdf">ACMG Algorithm, 2009</a><div>American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2009</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20hypothyroidism" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/congenital-hypothyroidism" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/1487/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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<a href="/pubmed/clinical?term=Congenital%20hypothyroidism" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Congenital%20hypothyroidism%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0010308[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=41344" ref="log$=recordlinks">PMC Articles</a>
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