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Genetic transient congenital hypothyroidism

MedGen UID:
1670118
Concept ID:
C4749351
Disease or Syndrome
SNOMED CT: Genetic transient congenital hypothyroidism (770631009)
 
Orphanet: ORPHA226316

Definition

A rare thyroid disease with characteristics of a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGenetic transient congenital hypothyroidism

Professional guidelines

PubMed

Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Lee SM, Kwak MJ
Ann Clin Lab Sci 2021 Jan;51(1):73-81. PMID: 33653783
Fugazzola L, Muzza M, Weber G, Beck-Peccoz P, Persani L
Ann Endocrinol (Paris) 2011 Apr;72(2):82-6. Epub 2011 Apr 20 doi: 10.1016/j.ando.2011.03.004. PMID: 21511237

Recent clinical studies

Etiology

Xie T, Tan M, Jiang X, Feng Y, Chen Q, Mei H, Cai Y, Zou H, Huang Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Jun 25;51(3):314-320. doi: 10.3724/zdxbyxb-2022-0213. PMID: 36207837Free PMC Article
Perri K, De Mori L, Tortora D, Calevo MG, Allegri AEM, Napoli F, Patti G, Fava D, Crocco M, Schiavone M, Casalini E, Severino M, Rossi A, Di Iorgi N, Gastaldi R, Maghnie M
J Clin Endocrinol Metab 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Simpser T, Rapaport R
J Clin Res Pediatr Endocrinol 2010;2(3):95-9. Epub 2010 Aug 1 doi: 10.4274/jcrpe.v2i3.95. PMID: 21274321Free PMC Article
American Academy of Pediatrics, Rose SR; Section on Endocrinology and Committee on Genetics, American Thyroid Association, Brown RS; Public Health Committee, Lawson Wilkins Pediatric Endocrine Society, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, Varma SK
Pediatrics 2006 Jun;117(6):2290-303. doi: 10.1542/peds.2006-0915. PMID: 16740880

Diagnosis

Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE
Pediatrics 2023 Jan 1;151(1) doi: 10.1542/peds.2022-060419. PMID: 36827523
Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE
Pediatrics 2023 Jan 1;151(1) doi: 10.1542/peds.2022-060420. PMID: 36827521
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499

Therapy

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Xie T, Tan M, Jiang X, Feng Y, Chen Q, Mei H, Cai Y, Zou H, Huang Y
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Jun 25;51(3):314-320. doi: 10.3724/zdxbyxb-2022-0213. PMID: 36207837Free PMC Article
Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Perri K, De Mori L, Tortora D, Calevo MG, Allegri AEM, Napoli F, Patti G, Fava D, Crocco M, Schiavone M, Casalini E, Severino M, Rossi A, Di Iorgi N, Gastaldi R, Maghnie M
J Clin Endocrinol Metab 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732
Simpser T, Rapaport R
J Clin Res Pediatr Endocrinol 2010;2(3):95-9. Epub 2010 Aug 1 doi: 10.4274/jcrpe.v2i3.95. PMID: 21274321Free PMC Article

Prognosis

Kara C, Mammadova J, Abur Ü, Gumuskaptan C, İzci Güllü E, Dağdemir A, Aydın M
Eur Thyroid J 2023 Jun 1;12(3) Epub 2023 Apr 13 doi: 10.1530/ETJ-22-0212. PMID: 36913313Free PMC Article
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Wassner AJ, Brown RS
Curr Opin Endocrinol Diabetes Obes 2013 Oct;20(5):449-54. doi: 10.1097/01.med.0000433063.78799.c2. PMID: 23974774Free PMC Article
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Dias VM, Campos AP, Chagas AJ, Silva RM
J Pediatr Endocrinol Metab 2010 Aug;23(8):815-26. doi: 10.1515/jpem.2010.131. PMID: 21073124

Clinical prediction guides

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):353-363. Epub 2023 Feb 20 doi: 10.1515/jpem-2022-0101. PMID: 36798001
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Perri K, De Mori L, Tortora D, Calevo MG, Allegri AEM, Napoli F, Patti G, Fava D, Crocco M, Schiavone M, Casalini E, Severino M, Rossi A, Di Iorgi N, Gastaldi R, Maghnie M
J Clin Endocrinol Metab 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. PMID: 34105732
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article

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