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<meta name="keywords" content="C0677607, autoimmune lymphocytic chronic thyroiditis, autoimmune thyroiditis, chronic lymphocytic thyroiditides, chronic lymphocytic thyroiditis, ctla4, disease or syndrome, disease, hashimoto, disease, hashimoto's, hashimoto disease, hashimoto hypothyroidism, hashimoto struma, hashimoto syndrome, hashimoto thyroiditides, hashimoto thyroiditis, hashimoto's disease, hashimoto's struma, hashimoto's syndrome, hashimoto's syndromes, hashimoto's thyroiditis, hashimotos disease, hashimotos syndrome, ht, hypothyroidism, autoimmune, hypothyroidism, autoimmune thyroid autoantibodies, included, lymphocytic thyroiditides, chronic, lymphocytic thyroiditis, lymphocytic thyroiditis, chronic, non rare in europe: hashimoto thyroiditis, struma lymphomatosa, struma lymphomatosis, syndrome, hashimoto's, syndromes, hashimoto's, thyroid autoantibodies, thyroiditides, chronic lymphocytic, thyroiditides, hashimoto, thyroiditis, chronic lymphocytic, thyroiditis, hashimoto, 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="Hashimoto thyroiditis (HT) is a chronic autoimmune thyroiditis characterized by diffuse lymphocytic infiltration, thyroid follicles of reduced size containing sparse colloid, and fibrosis replacing the thyroid parenchyma (summary by Klintschar et al., 2001)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=151769
ConceptID=C0677607
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hashimoto thyroiditis<span class="h1sub">(HT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151769</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0677607</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Hashimoto Disease; HASHIMOTO STRUMA; HT; HYPOTHYROIDISM, AUTOIMMUNE</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Hashimoto thyroiditis (21983002); Autoimmune lymphocytic chronic thyroiditis (21983002); Lymphocytic thyroiditis (21983002); Struma lymphomatosa (21983002); Hashimoto's disease (21983002); Struma lymphomatosis (21983002); Chronic lymphocytic thyroiditis (21983002); Hashimoto's thyroiditis (21983002)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
Gene(s) directly associated with<br />
this condition or phenotype.</div></td>
<td><a target="_blank" title="CTLA4 - ID: 1493 - NCBI Gene" href="/gene/1493" class="medgenPMinfo">CTLA4</a> (2q33.2)</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:0000872">HP:0000872</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0007699" target="_blank">MONDO:0007699</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/140300" target="_blank">140300</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&amp;Expert=855">ORPHA855</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_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">Hashimoto thyroiditis (HT) is a chronic autoimmune thyroiditis characterized by diffuse lymphocytic infiltration, thyroid follicles of reduced size containing sparse colloid, and fibrosis replacing the thyroid parenchyma (summary by Klintschar et al., 2001). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Hashimoto's disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto's disease is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones.<br /><br />One of the first signs of Hashimoto's disease is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear.<br /><br />Other signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with Hashimoto's disease may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones.<br /><br />Hashimoto's disease usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.  <a target="_blank" href="https://medlineplus.gov/genetics/condition/hashimotos-disease">https://medlineplus.gov/genetics/condition/hashimotos-disease</a></div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_151769"><div><strong>Hashimoto thyroiditis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151769</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0677607</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hashimoto thyroiditis (HT) is a chronic autoimmune thyroiditis characterized by diffuse lymphocytic infiltration, thyroid follicles of reduced size containing sparse colloid, and fibrosis replacing the thyroid parenchyma (summary by Klintschar et al., 2001).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/151769">Feature record</a> | <a href="/medgen?term=%22Hashimoto%20thyroiditis%22%5BClinical%20Features%5D%20OR%20151769%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_868268"><div><strong>Autoimmune antibody positivity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868268</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)&#10;Click for more information.">C4022660</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/868268">Feature record</a> | <a href="/medgen?term=%22Autoimmune%20antibody%20positivity%22%5BClinical%20Features%5D%20OR%20868268%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868268" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune antibody positivity</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_151769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hashimoto thyroiditis</a></span></li></ul></li></ul></div></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=C0677607[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=151769">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=151769" target="_blank" href="/omim/140300">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&amp;from_uid=151769" ref="ncbi_uid=151769">V</a></span></span><span class="TLline">Hashimoto thyroiditis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><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/232638" ref="tree=MeSH" title="MedGen record for Immune System and Related Disorders">Immune System and Related Disorders</a></span><ul><li><span class="TLline"><a href="/medgen/5759" ref="tree=MeSH" title="MedGen record for Immune system disorder">Immune system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/2135" ref="tree=MeSH" title="MedGen record for Autoimmune disease">Autoimmune disease</a></span><ul><li><span class="matched_ds">Hashimoto thyroiditis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_151769"><div><strong>Hashimoto thyroiditis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>151769</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)&#10;Click for more information."><span class="highlight" style="background-color:">C0677607</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Hashimoto thyroiditis (HT) is a chronic autoimmune thyroiditis characterized by diffuse lymphocytic infiltration, thyroid follicles of reduced size containing sparse colloid, and fibrosis replacing the thyroid parenchyma (summary by Klintschar et al., 2001).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/151769">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_331795"><div><strong>Myasthenia, limb-girdle, autoimmune</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331795</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)&#10;Click for more information.">C1834635</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/331795">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_335848"><div><strong>Autoimmune disease, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335848</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)&#10;Click for more information.">C1842979</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/335848">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373469"><div><strong>Multiple endocrine neoplasia type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373469</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)&#10;Click for more information.">C1970712</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove">Multiple endocrine neoplasia type 4 (MEN4) is characterized by the development of endocrine tumors, especially those involving the parathyroid and/or pituitary gland. Parathyroid adenomas and parathyroid hyperplasia manifest as hypercalcemia (primary hyperparathyroidism) as a result of the overproduction of parathyroid hormone. Anterior pituitary adenomas can secrete adrenocorticotrophic hormone (ACTH), growth hormone (GH), prolactin, or are nonfunctional (nonsecreting) adenomas. Well-differentiated endocrine tumors of the gastroenteropancreatic tract, carcinoid tumors, and adrenocortical tumors can also occur.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373469">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_461999"><div><strong>Syndromic multisystem autoimmune disease due to ITCH deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>461999</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)&#10;Click for more information.">C3150649</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/461999">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462428"><div><strong>Complement component C1s deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462428</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)&#10;Click for more information.">C3151078</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Complement component C1s deficiency (C1SD) is an autosomal recessive disorder characterized by the presence of autoimmune diseases including a systemic lupus erythematosus-like disorder, Hashimoto thyroiditis, autoimmune hepatitis, and chronic glomerulonephritis (Inoue et al., 1998, Dragon-Durey et al., 2001).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462428">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482544"><div><strong>Familial cold autoinflammatory syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482544</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)&#10;Click for more information.">C3280914</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Familial cold autoinflammatory syndrome-3 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012).&#13; For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482544">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_854497"><div><strong>Vasculitis due to ADA2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854497</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)&#10;Click for more information.">C3887654</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Adenosine deaminase 2 deficiency (DADA2) is a complex systemic autoinflammatory disorder in which vasculopathy/vasculitis, dysregulated immune function, and/or hematologic abnormalities may predominate. Inflammatory features include intermittent fevers, rash (often livedo racemosa/reticularis), and musculoskeletal involvement (myalgia/arthralgia, arthritis, myositis). Vasculitis, which usually begins before age ten years, may manifest as early-onset ischemic (lacunar) and/or hemorrhagic strokes, or as cutaneous or systemic polyarteritis nodosa. Hypertension and hepatosplenomegaly are often found. More severe involvement may lead to progressive central neurologic deficits (dysarthria, ataxia, cranial nerve palsies, cognitive impairment) or to ischemic injury to the kidney, intestine, and/or digits. Dysregulation of immune function can lead to immunodeficiency or autoimmunity of varying severity; lymphadenopathy may be present and some affected individuals have had lymphoproliferative disease. Hematologic disorders may begin early in life or in late adulthood, and can include lymphopenia, neutropenia, pure red cell aplasia, thrombocytopenia, or pancytopenia. Of note, both interfamilial and intrafamilial phenotypic variability (e.g., in age of onset, frequency and severity of manifestations) can be observed; also, individuals with biallelic ADA2 pathogenic variants may remain asymptomatic until adulthood or may never develop clinical manifestations of DADA2.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854497">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_908796"><div><strong>Cowden syndrome 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>908796</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)&#10;Click for more information.">C4225179</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\n\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/908796">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648299"><div><strong>Vertebral anomalies and variable endocrine and T-cell dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648299</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)&#10;Click for more information.">C4748741</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648299">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684882"><div><strong>Hepatitis, fulminant viral, susceptibility to</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684882</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)&#10;Click for more information.">C5231406</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684882">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335848" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autoimmune disease, susceptibility to, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Complement component C1s deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_908796" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial cold autoinflammatory syndrome 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_151769" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hashimoto thyroiditis</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hepatitis, fulminant viral, susceptibility to</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple endocrine neoplasia type 4</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331795" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myasthenia, limb-girdle, autoimmune</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_461999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndromic multisystem autoimmune disease due to ITCH deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vasculitis due to ADA2 deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648299" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vertebral anomalies and variable endocrine and T-cell dysfunction</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/35243857">Hashimoto thyroiditis: an evidence-based guide to etiology, diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klubo-Gwiezdzinska J,
Wartofsky L</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2022 Mar 30;132(3)
Epub 2022 Mar 3
doi: 10.20452/pamw.16222.
<span class="bold">PMID: </span><a href="/pubmed/35243857" target="_blank">35243857</a><a href="/pmc/articles/PMC9478900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34983968">Assessment and treatment of thyroid disorders in pregnancy and the postpartum period.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
Pearce EN</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2022 Mar;18(3):158-171.
Epub 2022 Jan 4
doi: 10.1038/s41574-021-00604-z.
<span class="bold">PMID: </span><a href="/pubmed/34983968" target="_blank">34983968</a><a href="/pmc/articles/PMC9020832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24434360">Hashimoto thyroiditis: clinical and diagnostic criteria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Caturegli P,
De Remigis A,
Rose NR</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2014 Apr-May;13(4-5):391-7.
Epub 2014 Jan 13
doi: 10.1016/j.autrev.2014.01.007.
<span class="bold">PMID: </span><a href="/pubmed/24434360" target="_blank">24434360</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hashimoto%20thyroiditis%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 (27)</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>
</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/38542128">Autoimmune Thyroiditis and Vitamin D.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Durá-Travé T,
Gallinas-Victoriano F</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2024 Mar 9;25(6)
doi: 10.3390/ijms25063154.
<span class="bold">PMID: </span><a href="/pubmed/38542128" target="_blank">38542128</a><a href="/pmc/articles/PMC10969999" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38243784">Selenium Supplementation in Patients with Hashimoto Thyroiditis: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huwiler VV,
Maissen-Abgottspon S,
Stanga Z,
Mühlebach S,
Trepp R,
Bally L,
Bano A</span><br />
<span class="medgenPMjournal">Thyroid</span>
2024 Mar;34(3):295-313.
Epub 2024 Feb 16
doi: 10.1089/thy.2023.0556.
<span class="bold">PMID: </span><a href="/pubmed/38243784" target="_blank">38243784</a><a href="/pmc/articles/PMC10951571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35243857">Hashimoto thyroiditis: an evidence-based guide to etiology, diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klubo-Gwiezdzinska J,
Wartofsky L</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2022 Mar 30;132(3)
Epub 2022 Mar 3
doi: 10.20452/pamw.16222.
<span class="bold">PMID: </span><a href="/pubmed/35243857" target="_blank">35243857</a><a href="/pmc/articles/PMC9478900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34983968">Assessment and treatment of thyroid disorders in pregnancy and the postpartum period.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
Pearce EN</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2022 Mar;18(3):158-171.
Epub 2022 Jan 4
doi: 10.1038/s41574-021-00604-z.
<span class="bold">PMID: </span><a href="/pubmed/34983968" target="_blank">34983968</a><a href="/pmc/articles/PMC9020832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31287527">Subclinical Hypothyroidism: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biondi B,
Cappola AR,
Cooper DS</span><br />
<span class="medgenPMjournal">JAMA</span>
2019 Jul 9;322(2):153-160.
doi: 10.1001/jama.2019.9052.
<span class="bold">PMID: </span><a href="/pubmed/31287527" target="_blank">31287527</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hashimoto%20thyroiditis%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 (502)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35243857">Hashimoto thyroiditis: an evidence-based guide to etiology, diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klubo-Gwiezdzinska J,
Wartofsky L</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2022 Mar 30;132(3)
Epub 2022 Mar 3
doi: 10.20452/pamw.16222.
<span class="bold">PMID: </span><a href="/pubmed/35243857" target="_blank">35243857</a><a href="/pmc/articles/PMC9478900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34983968">Assessment and treatment of thyroid disorders in pregnancy and the postpartum period.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SY,
Pearce EN</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2022 Mar;18(3):158-171.
Epub 2022 Jan 4
doi: 10.1038/s41574-021-00604-z.
<span class="bold">PMID: </span><a href="/pubmed/34983968" target="_blank">34983968</a><a href="/pmc/articles/PMC9020832" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34913664">Thyroiditis: Evaluation and Treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martinez Quintero B,
Yazbeck C,
Sweeney LB</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2021 Dec 1;104(6):609-617.
<span class="bold">PMID: </span><a href="/pubmed/34913664" target="_blank">34913664</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28315909">A concise review of Hashimoto thyroiditis (HT) and the importance of iodine, selenium, vitamin D and gluten on the autoimmunity and dietary management of HT patients.Points that need more investigation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liontiris MI,
Mazokopakis EE</span><br />
<span class="medgenPMjournal">Hell J Nucl Med</span>
2017 Jan-Apr;20(1):51-56.
Epub 2017 Mar 20
doi: 10.1967/s002449910507.
<span class="bold">PMID: </span><a href="/pubmed/28315909" target="_blank">28315909</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24434360">Hashimoto thyroiditis: clinical and diagnostic criteria.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Caturegli P,
De Remigis A,
Rose NR</span><br />
<span class="medgenPMjournal">Autoimmun Rev</span>
2014 Apr-May;13(4-5):391-7.
Epub 2014 Jan 13
doi: 10.1016/j.autrev.2014.01.007.
<span class="bold">PMID: </span><a href="/pubmed/24434360" target="_blank">24434360</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hashimoto%20thyroiditis%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 (519)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/38243784">Selenium Supplementation in Patients with Hashimoto Thyroiditis: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huwiler VV,
Maissen-Abgottspon S,
Stanga Z,
Mühlebach S,
Trepp R,
Bally L,
Bano A</span><br />
<span class="medgenPMjournal">Thyroid</span>
2024 Mar;34(3):295-313.
Epub 2024 Feb 16
doi: 10.1089/thy.2023.0556.
<span class="bold">PMID: </span><a href="/pubmed/38243784" target="_blank">38243784</a><a href="/pmc/articles/PMC10951571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36853554">Hashimoto's Encephalopathy: Case Series and Literature Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chaudhuri J,
Mukherjee A,
Chakravarty A</span><br />
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
2023 Apr;23(4):167-175.
Epub 2023 Feb 28
doi: 10.1007/s11910-023-01255-5.
<span class="bold">PMID: </span><a href="/pubmed/36853554" target="_blank">36853554</a><a href="/pmc/articles/PMC9972331" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35243857">Hashimoto thyroiditis: an evidence-based guide to etiology, diagnosis and treatment.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Klubo-Gwiezdzinska J,
Wartofsky L</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2022 Mar 30;132(3)
Epub 2022 Mar 3
doi: 10.20452/pamw.16222.
<span class="bold">PMID: </span><a href="/pubmed/35243857" target="_blank">35243857</a><a href="/pmc/articles/PMC9478900" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31287527">Subclinical Hypothyroidism: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biondi B,
Cappola AR,
Cooper DS</span><br />
<span class="medgenPMjournal">JAMA</span>
2019 Jul 9;322(2):153-160.
doi: 10.1001/jama.2019.9052.
<span class="bold">PMID: </span><a href="/pubmed/31287527" target="_blank">31287527</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28315909">A concise review of Hashimoto thyroiditis (HT) and the importance of iodine, selenium, vitamin D and gluten on the autoimmunity and dietary management of HT patients.Points that need more investigation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liontiris MI,
Mazokopakis EE</span><br />
<span class="medgenPMjournal">Hell J Nucl Med</span>
2017 Jan-Apr;20(1):51-56.
Epub 2017 Mar 20
doi: 10.1967/s002449910507.
<span class="bold">PMID: </span><a href="/pubmed/28315909" target="_blank">28315909</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hashimoto%20thyroiditis%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 (216)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37335408">Incident autoimmune diseases in association with SARS-CoV-2 infection: a matched cohort study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tesch F,
Ehm F,
Vivirito A,
Wende D,
Batram M,
Loser F,
Menzer S,
Jacob J,
Roessler M,
Seifert M,
Kind B,
König C,
Schulte C,
Buschmann T,
Hertle D,
Ballesteros P,
Baßler S,
Bertele B,
Bitterer T,
Riederer C,
Sobik F,
Reitzle L,
Scheidt-Nave C,
Schmitt J</span><br />
<span class="medgenPMjournal">Clin Rheumatol</span>
2023 Oct;42(10):2905-2914.
Epub 2023 Jun 19
doi: 10.1007/s10067-023-06670-0.
<span class="bold">PMID: </span><a href="/pubmed/37335408" target="_blank">37335408</a><a href="/pmc/articles/PMC10497688" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37109715">Autoimmune Thyroiditis Shifting from Hashimoto's Thyroiditis to Graves' Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Daramjav N,
Takagi J,
Iwayama H,
Uchino K,
Inukai D,
Otake K,
Ogawa T,
Takami A</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2023 Apr 13;59(4)
doi: 10.3390/medicina59040757.
<span class="bold">PMID: </span><a href="/pubmed/37109715" target="_blank">37109715</a><a href="/pmc/articles/PMC10141468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25251231">Thyroiditis: an integrated approach.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sweeney LB,
Stewart C,
Gaitonde DY</span><br />
<span class="medgenPMjournal">Am Fam Physician</span>
2014 Sep 15;90(6):389-96.
<span class="bold">PMID: </span><a href="/pubmed/25251231" target="_blank">25251231</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16444160">Hashimoto's Thyroiditis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lorini R,
Gastaldi R,
Traggiai C,
Perucchin PP</span><br />
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
2003 Dec;1 Suppl 2:205-11; discussion 211.
<span class="bold">PMID: </span><a href="/pubmed/16444160" target="_blank">16444160</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8541385">Mucosa-associated lymphoid tissue lymphomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Thieblemont C,
Berger F,
Coiffier B</span><br />
<span class="medgenPMjournal">Curr Opin Oncol</span>
1995 Sep;7(5):415-20.
<span class="bold">PMID: </span><a href="/pubmed/8541385" target="_blank">8541385</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hashimoto%20thyroiditis%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 (249)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38243784">Selenium Supplementation in Patients with Hashimoto Thyroiditis: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huwiler VV,
Maissen-Abgottspon S,
Stanga Z,
Mühlebach S,
Trepp R,
Bally L,
Bano A</span><br />
<span class="medgenPMjournal">Thyroid</span>
2024 Mar;34(3):295-313.
Epub 2024 Feb 16
doi: 10.1089/thy.2023.0556.
<span class="bold">PMID: </span><a href="/pubmed/38243784" target="_blank">38243784</a><a href="/pmc/articles/PMC10951571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38201918">Subclinical Hypothyroidism in Patients with Obesity and Metabolic Syndrome: A Narrative Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biondi B</span><br />
<span class="medgenPMjournal">Nutrients</span>
2023 Dec 27;16(1)
doi: 10.3390/nu16010087.
<span class="bold">PMID: </span><a href="/pubmed/38201918" target="_blank">38201918</a><a href="/pmc/articles/PMC10780356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37109715">Autoimmune Thyroiditis Shifting from Hashimoto's Thyroiditis to Graves' Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Daramjav N,
Takagi J,
Iwayama H,
Uchino K,
Inukai D,
Otake K,
Ogawa T,
Takami A</span><br />
<span class="medgenPMjournal">Medicina (Kaunas)</span>
2023 Apr 13;59(4)
doi: 10.3390/medicina59040757.
<span class="bold">PMID: </span><a href="/pubmed/37109715" target="_blank">37109715</a><a href="/pmc/articles/PMC10141468" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35307540">Systematic review of COVID-19 and autoimmune thyroiditis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tutal E,
Ozaras R,
Leblebicioglu H</span><br />
<span class="medgenPMjournal">Travel Med Infect Dis</span>
2022 May-Jun;47:102314.
Epub 2022 Mar 18
doi: 10.1016/j.tmaid.2022.102314.
<span class="bold">PMID: </span><a href="/pubmed/35307540" target="_blank">35307540</a><a href="/pmc/articles/PMC8930178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31287527">Subclinical Hypothyroidism: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biondi B,
Cappola AR,
Cooper DS</span><br />
<span class="medgenPMjournal">JAMA</span>
2019 Jul 9;322(2):153-160.
doi: 10.1001/jama.2019.9052.
<span class="bold">PMID: </span><a href="/pubmed/31287527" target="_blank">31287527</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hashimoto%20thyroiditis%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 (272)</a></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38243784">Selenium Supplementation in Patients with Hashimoto Thyroiditis: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huwiler VV,
Maissen-Abgottspon S,
Stanga Z,
Mühlebach S,
Trepp R,
Bally L,
Bano A</span><br />
<span class="medgenPMjournal">Thyroid</span>
2024 Mar;34(3):295-313.
Epub 2024 Feb 16
doi: 10.1089/thy.2023.0556.
<span class="bold">PMID: </span><a href="/pubmed/38243784" target="_blank">38243784</a><a href="/pmc/articles/PMC10951571" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/37094072">Association between oral lichen planus and Hashimoto thyroiditis: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Serni L,
Barbato L,
Nieri M,
Mallardi M,
Noce D,
Cairo F</span><br />
<span class="medgenPMjournal">Oral Dis</span>
2024 Apr;30(3):957-961.
Epub 2023 Apr 24
doi: 10.1111/odi.14591.
<span class="bold">PMID: </span><a href="/pubmed/37094072" target="_blank">37094072</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35307540">Systematic review of COVID-19 and autoimmune thyroiditis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tutal E,
Ozaras R,
Leblebicioglu H</span><br />
<span class="medgenPMjournal">Travel Med Infect Dis</span>
2022 May-Jun;47:102314.
Epub 2022 Mar 18
doi: 10.1016/j.tmaid.2022.102314.
<span class="bold">PMID: </span><a href="/pubmed/35307540" target="_blank">35307540</a><a href="/pmc/articles/PMC8930178" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34867823">Association Between Gut Microbiota and Autoimmune Thyroid Disease: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gong B,
Wang C,
Meng F,
Wang H,
Song B,
Yang Y,
Shan Z</span><br />
<span class="medgenPMjournal">Front Endocrinol (Lausanne)</span>
2021;12:774362.
Epub 2021 Nov 17
doi: 10.3389/fendo.2021.774362.
<span class="bold">PMID: </span><a href="/pubmed/34867823" target="_blank">34867823</a><a href="/pmc/articles/PMC8635774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29800939">Association of Depression and Anxiety Disorders With Autoimmune Thyroiditis: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Siegmann EM,
Müller HHO,
Luecke C,
Philipsen A,
Kornhuber J,
Grömer TW</span><br />
<span class="medgenPMjournal">JAMA Psychiatry</span>
2018 Jun 1;75(6):577-584.
doi: 10.1001/jamapsychiatry.2018.0190.
<span class="bold">PMID: </span><a href="/pubmed/29800939" target="_blank">29800939</a><a href="/pmc/articles/PMC6137529" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hashimoto%20thyroiditis%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 (18)</a></div></div>
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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>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0677607%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
<li><a href="/gtr/tests?term=C0677607%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
<li><a href="/gtr/tests?term=C0677607%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
<li><a href="/gtr/tests?term=C0677607%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0677607%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&amp;start=1&amp;limit=10&amp;sort=score%20desc&amp;field=number&amp;search=140300" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=855" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hashimoto%20thyroiditis" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22hashimoto%20thyroiditis%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(%22Hashimoto%20thyroiditis%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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hashimoto%27s+syndrome/3247" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hashimoto_thyroiditis" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&amp;query=Hashimoto%20thyroiditis" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hashimotos-disease" target="_blank">MedlinePlusGenetics (GHR)</a></li></ul></div>
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