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<meta name="keywords" content="C0020550, disease or syndrome, hyperthyroid, hyperthyroidism, hyperthyroids, overactive thyroid, 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="An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=6972
ConceptID=C0020550
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperthyroidism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6972</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.">C0020550</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>Hyperthyroid; Hyperthyroids</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Hyperthyroidism (34486009)</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:0000836">HP:0000836</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0004425" target="_blank">MONDO:0004425</a></td></tr>
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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">An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</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=C0020550[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=6972">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&amp;from_uid=6972" ref="ncbi_uid=6972">V</a></span></span><span class="TLline">Hyperthyroidism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/893021" ref="tree=MeSH" title="MedGen record for Abnormality of the endocrine system">Abnormality of the endocrine system</a></span><ul><li><span class="TLline"><a href="/medgen/1378579" ref="tree=MeSH" title="MedGen record for Abnormality of the thyroid gland">Abnormality of the thyroid gland</a></span><ul><li><span class="TLline"><a href="/medgen/808233" ref="tree=MeSH" title="MedGen record for Abnormality of thyroid physiology">Abnormality of thyroid physiology</a></span><ul><li><span class="matched_ds">Hyperthyroidism</span><ul><li><span class="TLline"><a href="/medgen/1384625" ref="tree=MeSH" title="MedGen record for Acquired Hyperthyroidism">Acquired Hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/823901" ref="tree=MeSH" title="MedGen record for Central Hyperthyroidism">Central Hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/1393085" ref="tree=MeSH" title="MedGen record for Congenital Hyperthyroidism">Congenital Hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/6677" ref="tree=MeSH" title="MedGen record for Graves disease">Graves disease</a></span><ul><li><span class="TLline"><a href="/medgen/543546" ref="tree=MeSH" title="MedGen record for Neonatal Graves disease">Neonatal Graves disease</a></span></li><li><span class="TLline"><a href="/medgen/83281" ref="tree=MeSH" title="MedGen record for Thyroid eye disease">Thyroid eye disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90974" ref="tree=MeSH" title="MedGen record for Hyperthyroxinemia, familial dysalbuminemic">Hyperthyroxinemia, familial dysalbuminemic</a></span></li><li><span class="TLline"><a href="/medgen/574850" ref="tree=MeSH" title="MedGen record for Iodine-induced hyperthyroidism">Iodine-induced hyperthyroidism</a></span></li><li><span class="TLline"><a href="/medgen/137963" ref="tree=MeSH" title="MedGen record for Plummer disease">Plummer disease</a></span></li><li><span class="TLline"><a href="/medgen/811409" ref="tree=MeSH" title="MedGen record for Primary Hyperthyroidism">Primary Hyperthyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/1388665" ref="tree=MeSH" title="MedGen record for Transient Primary Hypothyroidism">Transient Primary Hypothyroidism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11813" ref="tree=MeSH" title="MedGen record for Thyroid crisis">Thyroid crisis</a></span></li><li><span class="TLline"><a href="/medgen/11814" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis">Thyrotoxicosis</a></span><ul><li><span class="TLline"><a href="/medgen/574837" ref="tree=MeSH" title="MedGen record for Hyperthyroidism with Hashimoto disease">Hyperthyroidism with Hashimoto disease</a></span></li><li><span class="TLline"><a href="/medgen/510684" ref="tree=MeSH" title="MedGen record for Neonatal thyrotoxicosis">Neonatal thyrotoxicosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488788" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis from ectopic thyroid tissue">Thyrotoxicosis from ectopic thyroid tissue</a></span></li><li><span class="TLline"><a href="/medgen/488851" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis with diffuse goiter">Thyrotoxicosis with diffuse goiter</a></span></li><li><span class="TLline"><a href="/medgen/488787" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis with toxic multinodular goiter">Thyrotoxicosis with toxic multinodular goiter</a></span></li><li><span class="TLline"><a href="/medgen/488786" ref="tree=MeSH" title="MedGen record for Thyrotoxicosis with toxic single thyroid nodule">Thyrotoxicosis with toxic single thyroid nodule</a></span></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_39126"><div><strong>Polyglandular autoimmune syndrome, type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39126</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.">C0085860</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autoimmune polyendocrine syndrome type II (APS2), or Schmidt syndrome, is characterized by the presence of autoimmune Addison disease in association with either autoimmune thyroid disease or type I diabetes mellitus, or both. Chronic candidiasis is not present. APS2 may occur at any age and in both sexes, but is most common in middle-aged females and is very rare in childhood (summary by Betterle et al., 2004).&#13; See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/39126">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_69164"><div><strong>McCune-Albright syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69164</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.">C0242292</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Fibrous dysplasia / McCune-Albright syndrome (FD/MAS), the result of an early embryonic postzygotic somatic activating pathogenic variant in GNAS (encoding the cAMP pathway-associated G protein Gas [Gs alpha subunit]), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gas signaling is ubiquitous, additional tissues may be affected. Hyperpigmented skin macules are common and are usually the first manifestation of the disease, apparent at or shortly after birth. Fibrous dysplasia (FD), which can involve any part and combination of the craniofacial, axial, and/or appendicular skeleton, can range from an isolated, asymptomatic monostotic lesion discovered incidentally to severe, disabling polyostotic disease involving practically the entire skeleton and leading to progressive scoliosis, facial deformity, and loss of mobility, vision, and/or hearing. Endocrinopathies include gonadotropin-independent precocious puberty resulting from recurrent ovarian cysts in girls and autonomous testosterone production in boys; testicular lesions with or without associated gonadotropin-independent precocious puberty; thyroid lesions with or without non-autoimmune hyperthyroidism; growth hormone excess; FGF23-mediated phosphate wasting with or without hypophosphatemia in association with fibrous dysplasia; and neonatal hypercortisolism.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/69164">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_87464"><div><strong>Glutaryl-CoA oxidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87464</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.">C0342873</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Glutaric aciduria III is characterized by an isolated accumulation of glutaric acid. It appears to be a 'non-disease' as it is found in healthy individuals and is associated with inconsistent symptoms in others (summary by Marlaire et al., 2014).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/87464">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_327586"><div><strong>Andersen Tawil syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>327586</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.">C1563715</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Andersen-Tawil syndrome (ATS) is characterized by a triad of: episodic flaccid muscle weakness (i.e., periodic paralysis); ventricular arrhythmias and prolonged QT interval; and anomalies including low-set ears, widely spaced eyes, small mandible, fifth-digit clinodactyly, syndactyly, short stature, and scoliosis. Affected individuals present in the first or second decade with either cardiac symptoms (palpitations and/or syncope) or weakness that occurs spontaneously following prolonged rest or following rest after exertion. Mild permanent weakness is common. Mild learning difficulties and a distinct neurocognitive phenotype (i.e., deficits in executive function and abstract reasoning) have been described.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/327586">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_373154"><div><strong>Familial hyperthyroidism due to mutations in TSH receptor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373154</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.">C1836706</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/373154">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_333543"><div><strong>Selective pituitary resistance to thyroid hormone</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333543</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.">C1840364</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Selective pituitary resistance to thyroid hormone (PRTH) results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed TSH. The presence of a variety of thyrotoxic features, including palpitations, anxiety, tremor, heat intolerance, insomnia, weight loss, and increased stool frequency, suggests that peripheral tissues are less refractory to thyroid hormones than the pituitary (summary by Adams et al., 1994).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/333543">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355106"><div><strong>Familial gestational hyperthyroidism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355106</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.">C1863959</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see 118860) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (231090), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355106">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400984"><div><strong>PTEN hamartoma tumor syndrome with granular cell tumor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400984</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.">C1866376</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400984">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_413199"><div><strong>Thyrotoxic periodic paralysis, susceptibility to, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413199</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.">C2749982</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic attacks of weakness associated with hypokalemia in individuals with hyperthyroidism. The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and Koreans, although it occurs less commonly in individuals of Caucasian background. Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia, such as carbohydrate ingestion and rest after exercise (review by Kung, 2006).&#13; Genetic Heterogeneity of Thyrotoxic Periodic Paralysis&#13; See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/413199">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_413851"><div><strong>Thyrotoxic periodic paralysis, susceptibility to, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413851</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.">C2750473</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/413851">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767432"><div><strong>Cowden syndrome 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767432</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.">C3554518</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767432">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767433"><div><strong>Cowden syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767433</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.">C3554519</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The 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.\n\n\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\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\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 a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767433">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1620960"><div><strong>Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1620960</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.">C4540096</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Mitochondrial myopathy and ataxia (MMYAT) is an autosomal recessive mtDNA depletion disorder characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy (summary by Donkervoort et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1620960">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_327586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Andersen Tawil syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial gestational hyperthyroidism</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hyperthyroidism due to mutations in TSH receptor</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_87464" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glutaryl-CoA oxidase deficiency</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_69164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">McCune-Albright syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1620960" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39126" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyglandular autoimmune syndrome, type 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PTEN hamartoma tumor syndrome with granular cell tumor</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333543" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Selective pituitary resistance to thyroid hormone</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413199" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyrotoxic periodic paralysis, susceptibility to, 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thyrotoxic periodic paralysis, susceptibility to, 2</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/36848916">Hyperthyroidism: aetiology, pathogenesis, diagnosis, management, complications, and prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wiersinga WM,
Poppe KG,
Effraimidis G</span><br />
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
2023 Apr;11(4):282-298.
Epub 2023 Feb 24
doi: 10.1016/S2213-8587(23)00005-0.
<span class="bold">PMID: </span><a href="/pubmed/36848916" target="_blank">36848916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35662442">2022 Update on Clinical Management of Graves Disease and Thyroid Eye Disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoang TD,
Stocker DJ,
Chou EL,
Burch HB</span><br />
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
2022 Jun;51(2):287-304.
Epub 2022 May 11
doi: 10.1016/j.ecl.2021.12.004.
<span class="bold">PMID: </span><a href="/pubmed/35662442" target="_blank">35662442</a><a href="/pmc/articles/PMC9174594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34297684">The 2021 European Group on Graves' orbitopathy (EUGOGO) clinical practice guidelines for the medical management of Graves' orbitopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bartalena L,
Kahaly GJ,
Baldeschi L,
Dayan CM,
Eckstein A,
Marcocci C,
Marinò M,
Vaidya B,
Wiersinga WM;
EUGOGO †</span><br />
<span class="medgenPMjournal">Eur J Endocrinol</span>
2021 Aug 27;185(4):G43-G67.
doi: 10.1530/EJE-21-0479.
<span class="bold">PMID: </span><a href="/pubmed/34297684" target="_blank">34297684</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperthyroidism%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 (1429)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/36848916">Hyperthyroidism: aetiology, pathogenesis, diagnosis, management, complications, and prognosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wiersinga WM,
Poppe KG,
Effraimidis G</span><br />
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
2023 Apr;11(4):282-298.
Epub 2023 Feb 24
doi: 10.1016/S2213-8587(23)00005-0.
<span class="bold">PMID: </span><a href="/pubmed/36848916" target="_blank">36848916</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32252086">Hyperthyroidism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">McDermott MT</span><br />
<span class="medgenPMjournal">Ann Intern Med</span>
2020 Apr 7;172(7):ITC49-ITC64.
doi: 10.7326/AITC202004070.
<span class="bold">PMID: </span><a href="/pubmed/32252086" target="_blank">32252086</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31345521">Hyperthyroidism and Pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kobaly K,
Mandel SJ</span><br />
<span class="medgenPMjournal">Endocrinol Metab Clin North Am</span>
2019 Sep;48(3):533-545.
Epub 2019 Jun 17
doi: 10.1016/j.ecl.2019.05.002.
<span class="bold">PMID: </span><a href="/pubmed/31345521" target="_blank">31345521</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29569622">Global epidemiology of hyperthyroidism and hypothyroidism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Taylor PN,
Albrecht D,
Scholz A,
Gutierrez-Buey G,
Lazarus JH,
Dayan CM,
Okosieme OE</span><br />
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
2018 May;14(5):301-316.
Epub 2018 Mar 23
doi: 10.1038/nrendo.2018.18.
<span class="bold">PMID: </span><a href="/pubmed/29569622" target="_blank">29569622</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28740583">Hyperthyroidism and the Heart.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Osuna PM,
Udovcic M,
Sharma MD</span><br />
<span class="medgenPMjournal">Methodist Debakey Cardiovasc J</span>
2017 Apr-Jun;13(2):60-63.
doi: 10.14797/mdcj-13-2-60.
<span class="bold">PMID: </span><a href="/pubmed/28740583" target="_blank">28740583</a><a href="/pmc/articles/PMC5512680" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperthyroidism%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 (6489)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39067967">Thyroid Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dhir G,
Jain V,
Merritt A</span><br />
<span class="medgenPMjournal">Prim Care</span>
2024 Sep;51(3):405-415.
Epub 2024 May 23
doi: 10.1016/j.pop.2024.04.001.
<span class="bold">PMID: </span><a href="/pubmed/39067967" target="_blank">39067967</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36958843">Thyroid disease in pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yap YW,
Onyekwelu E,
Alam U</span><br />
<span class="medgenPMjournal">Clin Med (Lond)</span>
2023 Mar;23(2):125-128.
doi: 10.7861/clinmed.2023-0018.
<span class="bold">PMID: </span><a href="/pubmed/36958843" target="_blank">36958843</a><a href="/pmc/articles/PMC11046508" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36473171">Subclinical hyperthyroidism in children.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Metwalley KA,
Farghaly HS</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2023 Apr 25;36(4):342-345.
Epub 2022 Dec 6
doi: 10.1515/jpem-2022-0534.
<span class="bold">PMID: </span><a href="/pubmed/36473171" target="_blank">36473171</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35732440">Update on subclinical thyroid dysfunction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto K</span><br />
<span class="medgenPMjournal">Endocr J</span>
2022 Jul 28;69(7):725-738.
Epub 2022 Jun 22
doi: 10.1507/endocrj.EJ22-0182.
<span class="bold">PMID: </span><a href="/pubmed/35732440" target="_blank">35732440</a></div>
<div class="nl"><a target="_blank" href="/pubmed/1605993">Hyperthyroidism: a comprehensive review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Johnson JL,
Felicetta JV</span><br />
<span class="medgenPMjournal">J Am Acad Nurse Pract</span>
1992 Jan-Mar;4(1):8-14.
doi: 10.1111/j.1745-7599.1992.tb01105.x.
<span class="bold">PMID: </span><a href="/pubmed/1605993" target="_blank">1605993</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperthyroidism%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 (7364)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/31652102">SIDE EFFECTS OF PTU AND MMI IN THE TREATMENT OF HYPERTHYROIDISM: A SYSTEMATIC REVIEW AND META-ANALYSIS.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yu W,
Wu N,
Li L,
Wang J,
OuYang H,
Shen H</span><br />
<span class="medgenPMjournal">Endocr Pract</span>
2020 Feb;26(2):207-217.
Epub 2019 Oct 25
doi: 10.4158/EP-2019-0221.
<span class="bold">PMID: </span><a href="/pubmed/31652102" target="_blank">31652102</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31095287">A randomised phase II study investigating durvalumab in addition to an anthracycline taxane-based neoadjuvant therapy in early triple-negative breast cancer: clinical results and biomarker analysis of GeparNuevo study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Loibl S,
Untch M,
Burchardi N,
Huober J,
Sinn BV,
Blohmer JU,
Grischke EM,
Furlanetto J,
Tesch H,
Hanusch C,
Engels K,
Rezai M,
Jackisch C,
Schmitt WD,
von Minckwitz G,
Thomalla J,
Kümmel S,
Rautenberg B,
Fasching PA,
Weber K,
Rhiem K,
Denkert C,
Schneeweiss A</span><br />
<span class="medgenPMjournal">Ann Oncol</span>
2019 Aug 1;30(8):1279-1288.
doi: 10.1093/annonc/mdz158.
<span class="bold">PMID: </span><a href="/pubmed/31095287" target="_blank">31095287</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31021376">Treatment-Related Adverse Events of PD-1 and PD-L1 Inhibitors in Clinical Trials: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
Zhou S,
Yang F,
Qi X,
Wang X,
Guan X,
Shen C,
Duma N,
Vera Aguilera J,
Chintakuntlawar A,
Price KA,
Molina JR,
Pagliaro LC,
Halfdanarson TR,
Grothey A,
Markovic SN,
Nowakowski GS,
Ansell SM,
Wang ML</span><br />
<span class="medgenPMjournal">JAMA Oncol</span>
2019 Jul 1;5(7):1008-1019.
doi: 10.1001/jamaoncol.2019.0393.
<span class="bold">PMID: </span><a href="/pubmed/31021376" target="_blank">31021376</a><a href="/pmc/articles/PMC6487913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28973656">Incidence of Endocrine Dysfunction Following the Use of Different Immune Checkpoint Inhibitor Regimens: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barroso-Sousa R,
Barry WT,
Garrido-Castro AC,
Hodi FS,
Min L,
Krop IE,
Tolaney SM</span><br />
<span class="medgenPMjournal">JAMA Oncol</span>
2018 Feb 1;4(2):173-182.
doi: 10.1001/jamaoncol.2017.3064.
<span class="bold">PMID: </span><a href="/pubmed/28973656" target="_blank">28973656</a><a href="/pmc/articles/PMC5838579" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4136788">Hyperthyroidism and pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mestman JH,
Manning PR,
Hodgman J</span><br />
<span class="medgenPMjournal">Arch Intern Med</span>
1974 Sep;134(3):434-9.
<span class="bold">PMID: </span><a href="/pubmed/4136788" target="_blank">4136788</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperthyroidism%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 (7546)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31714398">Thyroid Storm in the ICU: A Retrospective Multicenter Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Bourcier S,
Coutrot M,
Kimmoun A,
Sonneville R,
de Montmollin E,
Persichini R,
Schnell D,
Charpentier J,
Aubron C,
Morawiec E,
Bigé N,
Nseir S,
Terzi N,
Razazi K,
Azoulay E,
Ferré A,
Tandjaoui-Lambiotte Y,
Ellrodt O,
Hraiech S,
Delmas C,
Barbier F,
Lautrette A,
Aissaoui N,
Repessé X,
Pichereau C,
Zerbib Y,
Lascarrou JB,
Carreira S,
Reuter D,
Frérou A,
Peigne V,
Fillatre P,
Megarbane B,
Voiriot G,
Combes A,
Schmidt M</span><br />
<span class="medgenPMjournal">Crit Care Med</span>
2020 Jan;48(1):83-90.
doi: 10.1097/CCM.0000000000004078.
<span class="bold">PMID: </span><a href="/pubmed/31714398" target="_blank">31714398</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24423323">The incidence and prevalence of thyroid dysfunction in Europe: a meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Garmendia Madariaga A,
Santos Palacios S,
Guillén-Grima F,
Galofré JC</span><br />
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
2014 Mar;99(3):923-31.
Epub 2014 Jan 1
doi: 10.1210/jc.2013-2409.
<span class="bold">PMID: </span><a href="/pubmed/24423323" target="_blank">24423323</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21418670">Hyperthyroidism (primary).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nygaard B</span><br />
<span class="medgenPMjournal">BMJ Clin Evid</span>
2010 Jul 19;2010
<span class="bold">PMID: </span><a href="/pubmed/21418670" target="_blank">21418670</a><a href="/pmc/articles/PMC3275323" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19501730">Recent developments in hyperthyroidism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kharlip J,
Cooper DS</span><br />
<span class="medgenPMjournal">Lancet</span>
2009 Jun 6;373(9679):1930-2.
doi: 10.1016/S0140-6736(09)61047-3.
<span class="bold">PMID: </span><a href="/pubmed/19501730" target="_blank">19501730</a></div>
<div class="nl"><a target="_blank" href="/pubmed/4136788">Hyperthyroidism and pregnancy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mestman JH,
Manning PR,
Hodgman J</span><br />
<span class="medgenPMjournal">Arch Intern Med</span>
1974 Sep;134(3):434-9.
<span class="bold">PMID: </span><a href="/pubmed/4136788" target="_blank">4136788</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperthyroidism%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 (3163)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/33548002">Thyroid function, sex hormones and sexual function: a Mendelian randomization study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kjaergaard AD,
Marouli E,
Papadopoulou A,
Deloukas P,
Kuś A,
Sterenborg R,
Teumer A,
Burgess S,
Åsvold BO,
Chasman DI,
Medici M,
Ellervik C</span><br />
<span class="medgenPMjournal">Eur J Epidemiol</span>
2021 Mar;36(3):335-344.
Epub 2021 Feb 6
doi: 10.1007/s10654-021-00721-z.
<span class="bold">PMID: </span><a href="/pubmed/33548002" target="_blank">33548002</a><a href="/pmc/articles/PMC7612952" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33543160">Thyroid disease: Long-term management of hyperthyroidism and hypothyroidism.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hughes K,
Eastman C</span><br />
<span class="medgenPMjournal">Aust J Gen Pract</span>
2021 Jan-Feb;50(1-2):36-42.
doi: 10.31128/AJGP-09-20-5653.
<span class="bold">PMID: </span><a href="/pubmed/33543160" target="_blank">33543160</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31237256">Thyroid emergencies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ylli D,
Klubo-Gwiezdzinska J,
Wartofsky L</span><br />
<span class="medgenPMjournal">Pol Arch Intern Med</span>
2019 Aug 29;129(7-8):526-534.
Epub 2019 Jun 25
doi: 10.20452/pamw.14876.
<span class="bold">PMID: </span><a href="/pubmed/31237256" target="_blank">31237256</a><a href="/pmc/articles/PMC6721612" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28822529">Atrial fibrillation and hyperthyroidism: A literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Reddy V,
Taha W,
Kundumadam S,
Khan M</span><br />
<span class="medgenPMjournal">Indian Heart J</span>
2017 Jul-Aug;69(4):545-550.
Epub 2017 Jul 5
doi: 10.1016/j.ihj.2017.07.004.
<span class="bold">PMID: </span><a href="/pubmed/28822529" target="_blank">28822529</a><a href="/pmc/articles/PMC5560908" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23920160">Thyroid storm: an updated review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chiha M,
Samarasinghe S,
Kabaker AS</span><br />
<span class="medgenPMjournal">J Intensive Care Med</span>
2015 Mar;30(3):131-40.
Epub 2013 Aug 5
doi: 10.1177/0885066613498053.
<span class="bold">PMID: </span><a href="/pubmed/23920160" target="_blank">23920160</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperthyroidism%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 (3617)</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>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36318760">Thyroid storm in pediatrics: a systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abisad DA,
Glenn Lecea EM,
Ballesteros AM,
Alarcon G,
Diaz A,
Pagan-Banchs P</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2023 Mar 28;36(3):225-233.
Epub 2022 Nov 2
doi: 10.1515/jpem-2022-0309.
<span class="bold">PMID: </span><a href="/pubmed/36318760" target="_blank">36318760</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35255260">Association between maternal thyroid function and risk of gestational hypertension and pre-eclampsia: a systematic review and individual-participant data meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Toloza FJK,
Derakhshan A,
Männistö T,
Bliddal S,
Popova PV,
Carty DM,
Chen L,
Taylor P,
Mosso L,
Oken E,
Suvanto E,
Itoh S,
Kishi R,
Bassols J,
Auvinen J,
López-Bermejo A,
Brown SJ,
Boucai L,
Hisada A,
Yoshinaga J,
Shilova E,
Grineva EN,
Vrijkotte TGM,
Sunyer J,
Jiménez-Zabala A,
Riaño-Galan I,
Lopez-Espinosa MJ,
Prokop LJ,
Singh Ospina N,
Brito JP,
Rodriguez-Gutierrez R,
Alexander EK,
Chaker L,
Pearce EN,
Peeters RP,
Feldt-Rasmussen U,
Guxens M,
Chatzi L,
Delles C,
Roeters van Lennep JE,
Pop VJM,
Lu X,
Walsh JP,
Nelson SM,
Korevaar TIM,
Maraka S</span><br />
<span class="medgenPMjournal">Lancet Diabetes Endocrinol</span>
2022 Apr;10(4):243-252.
Epub 2022 Mar 4
doi: 10.1016/S2213-8587(22)00007-9.
<span class="bold">PMID: </span><a href="/pubmed/35255260" target="_blank">35255260</a><a href="/pmc/articles/PMC10314731" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31021376">Treatment-Related Adverse Events of PD-1 and PD-L1 Inhibitors in Clinical Trials: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
Zhou S,
Yang F,
Qi X,
Wang X,
Guan X,
Shen C,
Duma N,
Vera Aguilera J,
Chintakuntlawar A,
Price KA,
Molina JR,
Pagliaro LC,
Halfdanarson TR,
Grothey A,
Markovic SN,
Nowakowski GS,
Ansell SM,
Wang ML</span><br />
<span class="medgenPMjournal">JAMA Oncol</span>
2019 Jul 1;5(7):1008-1019.
doi: 10.1001/jamaoncol.2019.0393.
<span class="bold">PMID: </span><a href="/pubmed/31021376" target="_blank">31021376</a><a href="/pmc/articles/PMC6487913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30309693">Amiodarone and thyroid physiology, pathophysiology, diagnosis and management.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Trohman RG,
Sharma PS,
McAninch EA,
Bianco AC</span><br />
<span class="medgenPMjournal">Trends Cardiovasc Med</span>
2019 Jul;29(5):285-295.
Epub 2018 Sep 20
doi: 10.1016/j.tcm.2018.09.005.
<span class="bold">PMID: </span><a href="/pubmed/30309693" target="_blank">30309693</a><a href="/pmc/articles/PMC6661016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28973656">Incidence of Endocrine Dysfunction Following the Use of Different Immune Checkpoint Inhibitor Regimens: A Systematic Review and Meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barroso-Sousa R,
Barry WT,
Garrido-Castro AC,
Hodi FS,
Min L,
Krop IE,
Tolaney SM</span><br />
<span class="medgenPMjournal">JAMA Oncol</span>
2018 Feb 1;4(2):173-182.
doi: 10.1001/jamaoncol.2017.3064.
<span class="bold">PMID: </span><a href="/pubmed/28973656" target="_blank">28973656</a><a href="/pmc/articles/PMC5838579" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperthyroidism%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 (232)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0020550%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
<li><a href="/gtr/tests?term=C0020550%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0020550%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Hyperthyroidism" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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