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Abnormality of thyroid physiology

MedGen UID:
808233
Concept ID:
C0857576
Finding
Synonym: Abnormal thyroid function
 
HPO: HP:0002926

Definition

An abnormal functionality of the thyroid gland. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of thyroid physiology

Conditions with this feature

Testicular anomalies with or without congenital heart disease
MedGen UID:
816188
Concept ID:
C3809858
Disease or Syndrome
Intellectual disability, X-linked 99, syndromic, female-restricted
MedGen UID:
899839
Concept ID:
C4225416
Disease or Syndrome
Female-restricted X-linked syndromic intellectual developmental disorder-99 (MRXS99F) is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

Professional guidelines

PubMed

Kobaly K, Kim CS, Mandel SJ
Annu Rev Med 2022 Jan 27;73:517-528. Epub 2021 Aug 20 doi: 10.1146/annurev-med-042220-015032. PMID: 34416120
Larson ST, Wilbur J
Am Fam Physician 2020 Jan 15;101(2):95-108. PMID: 31939642
Genazzani AD
Reprod Biomed Online 2016 Dec;33(6):770-780. Epub 2016 Sep 16 doi: 10.1016/j.rbmo.2016.08.024. PMID: 27717596

Recent clinical studies

Etiology

Derakhshan A, Peeters RP, Taylor PN, Bliddal S, Carty DM, Meems M, Vaidya B, Chen L, Knight BA, Ghafoor F, Popova PV, Mosso L, Oken E, Suvanto E, Hisada A, Yoshinaga J, Brown SJ, Bassols J, Auvinen J, Bramer WM, López-Bermejo A, Dayan CM, French R, Boucai L, Vafeiadi M, Grineva EN, Pop VJM, Vrijkotte TG, Chatzi L, Sunyer J, Jiménez-Zabala A, Riaño I, Rebagliato M, Lu X, Pirzada A, Männistö T, Delles C, Feldt-Rasmussen U, Alexander EK, Nelson SM, Chaker L, Pearce EN, Guxens M, Steegers EAP, Walsh JP, Korevaar TIM
Lancet Diabetes Endocrinol 2020 Jun;8(6):501-510. doi: 10.1016/S2213-8587(20)30061-9. PMID: 32445737Free PMC Article
Piantanida E, Ippolito S, Gallo D, Masiello E, Premoli P, Cusini C, Rosetti S, Sabatino J, Segato S, Trimarchi F, Bartalena L, Tanda ML
J Endocrinol Invest 2020 Jul;43(7):885-899. Epub 2020 Mar 12 doi: 10.1007/s40618-020-01208-6. PMID: 32166702
Ikegami K, Refetoff S, Van Cauter E, Yoshimura T
Nat Rev Endocrinol 2019 Oct;15(10):590-600. Epub 2019 Aug 12 doi: 10.1038/s41574-019-0237-z. PMID: 31406343Free PMC Article
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859

Diagnosis

Ikegami K, Refetoff S, Van Cauter E, Yoshimura T
Nat Rev Endocrinol 2019 Oct;15(10):590-600. Epub 2019 Aug 12 doi: 10.1038/s41574-019-0237-z. PMID: 31406343Free PMC Article
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Jasim S, Gharib H
Endocr Pract 2018 Apr;24(4):369-374. Epub 2017 Aug 17 doi: 10.4158/EP171796.RA. PMID: 28816538
Zhou JY, Xu B, Lopes J, Blamoun J, Li L
Acta Neurol Scand 2017 Mar;135(3):285-290. Epub 2016 Jun 20 doi: 10.1111/ane.12618. PMID: 27324276
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859

Therapy

Piantanida E, Ippolito S, Gallo D, Masiello E, Premoli P, Cusini C, Rosetti S, Sabatino J, Segato S, Trimarchi F, Bartalena L, Tanda ML
J Endocrinol Invest 2020 Jul;43(7):885-899. Epub 2020 Mar 12 doi: 10.1007/s40618-020-01208-6. PMID: 32166702
Dosiou C
Thyroid 2020 Apr;30(4):479-486. Epub 2020 Feb 4 doi: 10.1089/thy.2019.0382. PMID: 31903865
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859
Triggiani V, Tafaro E, Giagulli VA, Sabbà C, Resta F, Licchelli B, Guastamacchia E
Endocr Metab Immune Disord Drug Targets 2009 Sep;9(3):277-94. Epub 2009 Sep 1 doi: 10.2174/187153009789044392. PMID: 19594417

Prognosis

Rossetti CL, Cazarin J, Hecht F, Beltrão FEL, Ferreira ACF, Fortunato RS, Ramos HE, de Carvalho DP
Front Endocrinol (Lausanne) 2022;13:1041676. Epub 2022 Dec 19 doi: 10.3389/fendo.2022.1041676. PMID: 36601011Free PMC Article
Wang F, Zang Y, Li M, Liu W, Wang Y, Yu X, Li H, Wang F, Liu S
Front Endocrinol (Lausanne) 2020;11:237. Epub 2020 Apr 21 doi: 10.3389/fendo.2020.00237. PMID: 32425884Free PMC Article
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Nikiforova MN, Mercurio S, Wald AI, Barbi de Moura M, Callenberg K, Santana-Santos L, Gooding WE, Yip L, Ferris RL, Nikiforov YE
Cancer 2018 Apr 15;124(8):1682-1690. Epub 2018 Jan 18 doi: 10.1002/cncr.31245. PMID: 29345728Free PMC Article
Abduljabbar MA, Afifi AM
J Pediatr Endocrinol Metab 2012;25(1-2):13-29. doi: 10.1515/jpem.2011.408. PMID: 22570946

Clinical prediction guides

Piantanida E, Ippolito S, Gallo D, Masiello E, Premoli P, Cusini C, Rosetti S, Sabatino J, Segato S, Trimarchi F, Bartalena L, Tanda ML
J Endocrinol Invest 2020 Jul;43(7):885-899. Epub 2020 Mar 12 doi: 10.1007/s40618-020-01208-6. PMID: 32166702
Gallizzi R, Crisafulli C, Aversa T, Salzano G, De Luca F, Valenzise M, Zirilli G
Ital J Pediatr 2018 Feb 17;44(1):25. doi: 10.1186/s13052-018-0462-4. PMID: 29454373Free PMC Article
Tirosh A, Shimon I
Pituitary 2017 Feb;20(1):70-75. doi: 10.1007/s11102-016-0744-z. PMID: 27631334
Zhou JY, Xu B, Lopes J, Blamoun J, Li L
Acta Neurol Scand 2017 Mar;135(3):285-290. Epub 2016 Jun 20 doi: 10.1111/ane.12618. PMID: 27324276
Lorini R, Gastaldi R, Traggiai C, Perucchin PP
Pediatr Endocrinol Rev 2003 Dec;1 Suppl 2:205-11; discussion 211. PMID: 16444160

Recent systematic reviews

Chen B, Yan Y, Wang H, Xu J
Aging Cell 2023 Jul;22(7):e13874. Epub 2023 May 26 doi: 10.1111/acel.13874. PMID: 37232505Free PMC Article
Khoodoruth MAS, Abdo AKA, Ouanes S
J Clin Pharmacol 2022 Jan;62(1):20-35. Epub 2021 Oct 5 doi: 10.1002/jcph.1960. PMID: 34467533
Derakhshan A, Peeters RP, Taylor PN, Bliddal S, Carty DM, Meems M, Vaidya B, Chen L, Knight BA, Ghafoor F, Popova PV, Mosso L, Oken E, Suvanto E, Hisada A, Yoshinaga J, Brown SJ, Bassols J, Auvinen J, Bramer WM, López-Bermejo A, Dayan CM, French R, Boucai L, Vafeiadi M, Grineva EN, Pop VJM, Vrijkotte TG, Chatzi L, Sunyer J, Jiménez-Zabala A, Riaño I, Rebagliato M, Lu X, Pirzada A, Männistö T, Delles C, Feldt-Rasmussen U, Alexander EK, Nelson SM, Chaker L, Pearce EN, Guxens M, Steegers EAP, Walsh JP, Korevaar TIM
Lancet Diabetes Endocrinol 2020 Jun;8(6):501-510. doi: 10.1016/S2213-8587(20)30061-9. PMID: 32445737Free PMC Article
Consortium on Thyroid and Pregnancy—Study Group on Preterm Birth, Korevaar TIM, Derakhshan A, Taylor PN, Meima M, Chen L, Bliddal S, Carty DM, Meems M, Vaidya B, Shields B, Ghafoor F, Popova PV, Mosso L, Oken E, Suvanto E, Hisada A, Yoshinaga J, Brown SJ, Bassols J, Auvinen J, Bramer WM, López-Bermejo A, Dayan C, Boucai L, Vafeiadi M, Grineva EN, Tkachuck AS, Pop VJM, Vrijkotte TG, Guxens M, Chatzi L, Sunyer J, Jiménez-Zabala A, Riaño I, Murcia M, Lu X, Mukhtar S, Delles C, Feldt-Rasmussen U, Nelson SM, Alexander EK, Chaker L, Männistö T, Walsh JP, Pearce EN, Steegers EAP, Peeters RP
JAMA 2019 Aug 20;322(7):632-641. doi: 10.1001/jama.2019.10931. PMID: 31429897Free PMC Article
Shigesi N, Kvaskoff M, Kirtley S, Feng Q, Fang H, Knight JC, Missmer SA, Rahmioglu N, Zondervan KT, Becker CM
Hum Reprod Update 2019 Jul 1;25(4):486-503. doi: 10.1093/humupd/dmz014. PMID: 31260048Free PMC Article

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