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Activating thyroid-stimulating hormone receptor defect

MedGen UID:
868783
Concept ID:
C4023188
Finding
Synonym: Activating TSHR defect
 
HPO: HP:0011790

Definition

Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVActivating thyroid-stimulating hormone receptor defect

Professional guidelines

PubMed

Scarisbrick JJ, Morris S, Azurdia R, Illidge T, Parry E, Graham-Brown R, Cowan R, Gallop-Evans E, Wachsmuth R, Eagle M, Wierzbicki AS, Soran H, Whittaker S, Wain EM
Br J Dermatol 2013 Jan;168(1):192-200. Epub 2012 Dec 3 doi: 10.1111/bjd.12042. PMID: 22963233
LaFranchi S
Thyroid 1999 Jul;9(7):735-40. doi: 10.1089/thy.1999.9.735. PMID: 10447022
Polak M
Thyroid 1998 Dec;8(12):1171-7. doi: 10.1089/thy.1998.8.1171. PMID: 9920374

Recent clinical studies

Etiology

Wang S, Su ML, Zhang Y, Wu HM, Zou ZH, Zhang W, Deng F, Zhao Y
J Psychosom Res 2022 Oct;161:110998. Epub 2022 Jul 29 doi: 10.1016/j.jpsychores.2022.110998. PMID: 35964359
Hamed SA, Attiah FA, Abdulhamid SK, Fawzy M
PLoS One 2021;16(4):e0248937. Epub 2021 Apr 29 doi: 10.1371/journal.pone.0248937. PMID: 33914772Free PMC Article
García M, Fernández A, Moreno JC
Endocr Dev 2014;26:79-107. Epub 2014 Aug 29 doi: 10.1159/000363157. PMID: 25231446
Doerge DR, Sheehan DM
Environ Health Perspect 2002 Jun;110 Suppl 3(Suppl 3):349-53. doi: 10.1289/ehp.02110s3349. PMID: 12060828Free PMC Article
Bray GA
Proc Nutr Soc 2000 Aug;59(3):373-84. doi: 10.1017/s0029665100000422. PMID: 10997653

Diagnosis

Lee KW, Shin Y, Lee S, Lee S
Front Endocrinol (Lausanne) 2021;12:803024. Epub 2022 Jan 18 doi: 10.3389/fendo.2021.803024. PMID: 35126314Free PMC Article
Paragliola RM, Corsello A, Concolino P, Ianni F, Papi G, Pontecorvi A, Corsello SM
Front Biosci (Landmark Ed) 2020 Jan 1;25(2):201-228. doi: 10.2741/4803. PMID: 31585886
Grasberger H, Refetoff S
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):183-194. Epub 2017 Mar 30 doi: 10.1016/j.beem.2017.03.004. PMID: 28648507Free PMC Article
García M, Fernández A, Moreno JC
Endocr Dev 2014;26:79-107. Epub 2014 Aug 29 doi: 10.1159/000363157. PMID: 25231446
Persani L, Gelmini G, Marelli F, Beck-Peccoz P, Bonomi M
Ann Endocrinol (Paris) 2011 Apr;72(2):60-3. Epub 2011 Apr 21 doi: 10.1016/j.ando.2011.03.007. PMID: 21513912

Therapy

Wang S, Su ML, Zhang Y, Wu HM, Zou ZH, Zhang W, Deng F, Zhao Y
J Psychosom Res 2022 Oct;161:110998. Epub 2022 Jul 29 doi: 10.1016/j.jpsychores.2022.110998. PMID: 35964359
Girnita L, Smith TJ, Janssen JAMJL
J Clin Endocrinol Metab 2022 Aug 8;107(Suppl_1):S1-S12. doi: 10.1210/clinem/dgac045. PMID: 35167695Free PMC Article
Li H, Zhou X, Wang G, Hua D, Li S, Xu T, Dong M, Cui X, Yang X, Wu Y, Cai M, Liao X, Zhang T, Yang Z, Du Y, Li X
J Clin Endocrinol Metab 2022 Mar 24;107(4):1110-1126. doi: 10.1210/clinem/dgab819. PMID: 34751400
Lee KW, Shin Y, Lee S, Lee S
Front Endocrinol (Lausanne) 2021;12:803024. Epub 2022 Jan 18 doi: 10.3389/fendo.2021.803024. PMID: 35126314Free PMC Article
Doerge DR, Sheehan DM
Environ Health Perspect 2002 Jun;110 Suppl 3(Suppl 3):349-53. doi: 10.1289/ehp.02110s3349. PMID: 12060828Free PMC Article

Prognosis

Hamed SA, Attiah FA, Abdulhamid SK, Fawzy M
PLoS One 2021;16(4):e0248937. Epub 2021 Apr 29 doi: 10.1371/journal.pone.0248937. PMID: 33914772Free PMC Article
García M, González de Buitrago J, Jiménez-Rosés M, Pardo L, Hinkle PM, Moreno JC
J Clin Endocrinol Metab 2017 Jul 1;102(7):2433-2442. doi: 10.1210/jc.2016-3977. PMID: 28419241Free PMC Article
Järhult J, Rudberg C, Larsson E, Selvander H, Sjövall K, Winsa B, Rastad J, Karlsson FA; TEO Study Group
Thyroid 2005 Oct;15(10):1157-64. doi: 10.1089/thy.2005.15.1157. PMID: 16279849
LaFranchi S
Thyroid 1999 Jul;9(7):735-40. doi: 10.1089/thy.1999.9.735. PMID: 10447022
Spambalg D, Sharifi N, Elisei R, Gross JL, Medeiros-Neto G, Fagin JA
J Clin Endocrinol Metab 1996 Nov;81(11):3898-901. doi: 10.1210/jcem.81.11.8923835. PMID: 8923835

Clinical prediction guides

Wang S, Su ML, Zhang Y, Wu HM, Zou ZH, Zhang W, Deng F, Zhao Y
J Psychosom Res 2022 Oct;161:110998. Epub 2022 Jul 29 doi: 10.1016/j.jpsychores.2022.110998. PMID: 35964359
Girnita L, Smith TJ, Janssen JAMJL
J Clin Endocrinol Metab 2022 Aug 8;107(Suppl_1):S1-S12. doi: 10.1210/clinem/dgac045. PMID: 35167695Free PMC Article
Hamed SA, Attiah FA, Abdulhamid SK, Fawzy M
PLoS One 2021;16(4):e0248937. Epub 2021 Apr 29 doi: 10.1371/journal.pone.0248937. PMID: 33914772Free PMC Article
Tylki-Szymańska A, Acuna-Hidalgo R, Krajewska-Walasek M, Lecka-Ambroziak A, Steehouwer M, Gilissen C, Brunner HG, Jurecka A, Różdżyńska-Świątkowska A, Hoischen A, Chrzanowska KH
J Med Genet 2015 May;52(5):312-6. Epub 2015 Feb 10 doi: 10.1136/jmedgenet-2014-102936. PMID: 25670821
Pellegrini-Bouiller I, Morange-Ramos I, Barlier A, Gunz G, Enjalbert A, Jaquet P
Horm Res 1997;47(4-6):251-8. doi: 10.1159/000185472. PMID: 9167960

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