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Hyperthyroidism

MedGen UID:
6972
Concept ID:
C0020550
Disease or Syndrome
Synonyms: Hyperthyroid; Hyperthyroids
SNOMED CT: Hyperthyroidism (34486009)
 
HPO: HP:0000836
Monarch Initiative: MONDO:0004425

Definition

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 HPO]

Conditions with this feature

Polyglandular autoimmune syndrome, type 2
MedGen UID:
39126
Concept ID:
C0085860
Disease or Syndrome
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). See 240300 for a phenotypic description of autoimmune polyendocrine syndrome type I (APS1).
McCune-Albright syndrome
MedGen UID:
69164
Concept ID:
C0242292
Disease or Syndrome
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, Gsa), is characterized by involvement of the skin, skeleton, and certain endocrine organs. However, because Gsa signaling is ubiquitous, additional tissues may be affected. Café au lait 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. The prognosis for individuals with FD/MAS is based on disease location and severity.
Glutaryl-CoA oxidase deficiency
MedGen UID:
87464
Concept ID:
C0342873
Disease or Syndrome
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).
Andersen Tawil syndrome
MedGen UID:
327586
Concept ID:
C1563715
Disease or Syndrome
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.
Familial hyperthyroidism due to mutations in TSH receptor
MedGen UID:
373154
Concept ID:
C1836706
Disease or Syndrome
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.
Selective pituitary resistance to thyroid hormone
MedGen UID:
333543
Concept ID:
C1840364
Disease or Syndrome
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).
Familial gestational hyperthyroidism
MedGen UID:
355106
Concept ID:
C1863959
Disease or Syndrome
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).
PTEN hamartoma tumor syndrome with granular cell tumor
MedGen UID:
400984
Concept ID:
C1866376
Neoplastic Process
Thyrotoxic periodic paralysis, susceptibility to, 1
MedGen UID:
413199
Concept ID:
C2749982
Finding
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). Genetic Heterogeneity of Thyrotoxic Periodic Paralysis See also TTPP2 (613239), conferred by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834), mapped to chromosome 17q24.
Thyrotoxic periodic paralysis, susceptibility to, 2
MedGen UID:
413851
Concept ID:
C2750473
Finding
Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.
Cowden syndrome 5
MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
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.
Cowden syndrome 6
MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome
\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.\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.
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
MedGen UID:
1620960
Concept ID:
C4540096
Disease or Syndrome
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).

Professional guidelines

PubMed

Wiersinga WM, Poppe KG, Effraimidis G
Lancet Diabetes Endocrinol 2023 Apr;11(4):282-298. Epub 2023 Feb 24 doi: 10.1016/S2213-8587(23)00005-0. PMID: 36848916
Hoang TD, Stocker DJ, Chou EL, Burch HB
Endocrinol Metab Clin North Am 2022 Jun;51(2):287-304. Epub 2022 May 11 doi: 10.1016/j.ecl.2021.12.004. PMID: 35662442Free PMC Article
Bartalena L, Kahaly GJ, Baldeschi L, Dayan CM, Eckstein A, Marcocci C, Marinò M, Vaidya B, Wiersinga WM; EUGOGO †
Eur J Endocrinol 2021 Aug 27;185(4):G43-G67. doi: 10.1530/EJE-21-0479. PMID: 34297684

Recent clinical studies

Etiology

Wiersinga WM, Poppe KG, Effraimidis G
Lancet Diabetes Endocrinol 2023 Apr;11(4):282-298. Epub 2023 Feb 24 doi: 10.1016/S2213-8587(23)00005-0. PMID: 36848916
Hughes K, Eastman C
Aust J Gen Pract 2021 Jan-Feb;50(1-2):36-42. doi: 10.31128/AJGP-09-20-5653. PMID: 33543160
McDermott MT
Ann Intern Med 2020 Apr 7;172(7):ITC49-ITC64. doi: 10.7326/AITC202004070. PMID: 32252086
Taylor PN, Albrecht D, Scholz A, Gutierrez-Buey G, Lazarus JH, Dayan CM, Okosieme OE
Nat Rev Endocrinol 2018 May;14(5):301-316. Epub 2018 Mar 23 doi: 10.1038/nrendo.2018.18. PMID: 29569622
Osuna PM, Udovcic M, Sharma MD
Methodist Debakey Cardiovasc J 2017 Apr-Jun;13(2):60-63. doi: 10.14797/mdcj-13-2-60. PMID: 28740583Free PMC Article

Diagnosis

Giovanella L
Q J Nucl Med Mol Imaging 2021 Jun;65(2):89-90. Epub 2021 Feb 26 doi: 10.23736/S1824-4785.21.03351-3. PMID: 33634674
Kravets I
Am Fam Physician 2016 Mar 1;93(5):363-70. PMID: 26926973
Chiha M, Samarasinghe S, Kabaker AS
J Intensive Care Med 2015 Mar;30(3):131-40. Epub 2013 Aug 5 doi: 10.1177/0885066613498053. PMID: 23920160
Reid JR, Wheeler SF
Am Fam Physician 2005 Aug 15;72(4):623-30. PMID: 16127951
Johnson JL, Felicetta JV
J Am Acad Nurse Pract 1992 Jan-Mar;4(1):8-14. doi: 10.1111/j.1745-7599.1992.tb01105.x. PMID: 1605993

Therapy

Yu W, Wu N, Li L, Wang J, OuYang H, Shen H
Endocr Pract 2020 Feb;26(2):207-217. Epub 2019 Oct 25 doi: 10.4158/EP-2019-0221. PMID: 31652102
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
JAMA Oncol 2019 Jul 1;5(7):1008-1019. doi: 10.1001/jamaoncol.2019.0393. PMID: 31021376Free PMC Article
Barroso-Sousa R, Barry WT, Garrido-Castro AC, Hodi FS, Min L, Krop IE, Tolaney SM
JAMA Oncol 2018 Feb 1;4(2):173-182. doi: 10.1001/jamaoncol.2017.3064. PMID: 28973656Free PMC Article
Korevaar TIM, Medici M, Visser TJ, Peeters RP
Nat Rev Endocrinol 2017 Oct;13(10):610-622. Epub 2017 Aug 4 doi: 10.1038/nrendo.2017.93. PMID: 28776582
Reid JR, Wheeler SF
Am Fam Physician 2005 Aug 15;72(4):623-30. PMID: 16127951

Prognosis

O'Malley DM, Neffa M, Monk BJ, Melkadze T, Huang M, Kryzhanivska A, Bulat I, Meniawy TM, Bagameri A, Wang EW, Doger de Speville Uribe B, Hegg R, Ortuzar Feliu W, Ancukiewicz M, Lugowska I
J Clin Oncol 2022 Mar 1;40(7):762-771. Epub 2021 Dec 21 doi: 10.1200/JCO.21.02067. PMID: 34932394Free PMC Article
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
Crit Care Med 2020 Jan;48(1):83-90. doi: 10.1097/CCM.0000000000004078. PMID: 31714398
Laclaustra M, Moreno-Franco B, Lou-Bonafonte JM, Mateo-Gallego R, Casasnovas JA, Guallar-Castillon P, Cenarro A, Civeira F
Diabetes Care 2019 Feb;42(2):303-310. Epub 2018 Dec 14 doi: 10.2337/dc18-1410. PMID: 30552134
Garmendia Madariaga A, Santos Palacios S, Guillén-Grima F, Galofré JC
J Clin Endocrinol Metab 2014 Mar;99(3):923-31. Epub 2014 Jan 1 doi: 10.1210/jc.2013-2409. PMID: 24423323
Nygaard B
BMJ Clin Evid 2010 Jul 19;2010 PMID: 21418670Free PMC Article

Clinical prediction guides

Kjaergaard AD, Marouli E, Papadopoulou A, Deloukas P, Kuś A, Sterenborg R, Teumer A, Burgess S, Åsvold BO, Chasman DI, Medici M, Ellervik C
Eur J Epidemiol 2021 Mar;36(3):335-344. Epub 2021 Feb 6 doi: 10.1007/s10654-021-00721-z. PMID: 33548002Free PMC Article
Hughes K, Eastman C
Aust J Gen Pract 2021 Jan-Feb;50(1-2):36-42. doi: 10.31128/AJGP-09-20-5653. PMID: 33543160
Ylli D, Klubo-Gwiezdzinska J, Wartofsky L
Pol Arch Intern Med 2019 Aug 29;129(7-8):526-534. Epub 2019 Jun 25 doi: 10.20452/pamw.14876. PMID: 31237256Free PMC Article
Reddy V, Taha W, Kundumadam S, Khan M
Indian Heart J 2017 Jul-Aug;69(4):545-550. Epub 2017 Jul 5 doi: 10.1016/j.ihj.2017.07.004. PMID: 28822529Free PMC Article
Chiha M, Samarasinghe S, Kabaker AS
J Intensive Care Med 2015 Mar;30(3):131-40. Epub 2013 Aug 5 doi: 10.1177/0885066613498053. PMID: 23920160

Recent systematic reviews

Abisad DA, Glenn Lecea EM, Ballesteros AM, Alarcon G, Diaz A, Pagan-Banchs P
J Pediatr Endocrinol Metab 2023 Mar 28;36(3):225-233. Epub 2022 Nov 2 doi: 10.1515/jpem-2022-0309. PMID: 36318760
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
Lancet Diabetes Endocrinol 2022 Apr;10(4):243-252. Epub 2022 Mar 4 doi: 10.1016/S2213-8587(22)00007-9. PMID: 35255260Free PMC Article
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
JAMA Oncol 2019 Jul 1;5(7):1008-1019. doi: 10.1001/jamaoncol.2019.0393. PMID: 31021376Free PMC Article
Barroso-Sousa R, Barry WT, Garrido-Castro AC, Hodi FS, Min L, Krop IE, Tolaney SM
JAMA Oncol 2018 Feb 1;4(2):173-182. doi: 10.1001/jamaoncol.2017.3064. PMID: 28973656Free PMC Article
Sundaresh V, Brito JP, Wang Z, Prokop LJ, Stan MN, Murad MH, Bahn RS
J Clin Endocrinol Metab 2013 Sep;98(9):3671-7. Epub 2013 Jul 3 doi: 10.1210/jc.2013-1954. PMID: 23824415Free PMC Article

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