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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
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
LaFranchi S
Thyroid 1999 Jul;9(7):735-40. doi: 10.1089/thy.1999.9.735. PMID: 10447022

Recent clinical studies

Etiology

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
Wang F, Xiaole L, Ma R, Zhao D, Liu S
Endocrinology 2021 Aug 1;162(8) doi: 10.1210/endocr/bqab043. PMID: 33631011
Anastasovska V, Kocova M
J Pediatr Endocrinol Metab 2017 Apr 1;30(4):405-409. doi: 10.1515/jpem-2016-0178. PMID: 27658135
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Klett M
Exp Clin Endocrinol Diabetes 1997;105 Suppl 4:19-23. doi: 10.1055/s-0029-1211926. PMID: 9439909

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

Uehara E, Abe K, Tanase-Nakao K, Muroya K, Hattori A, Matsubara K, Fukami M, Narumi S
Thyroid 2024 Jul;34(7):827-836. Epub 2024 Jun 7 doi: 10.1089/thy.2024.0046. PMID: 38757580
Ding X, Liu Z, Zhang B, Yang Y, Wang Y, Yu B, Long W
J Clin Endocrinol Metab 2024 Jul 12;109(8):e1616-e1622. doi: 10.1210/clinem/dgad739. PMID: 38104243
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

Prognosis

Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Anastasovska V, Kocova M
J Pediatr Endocrinol Metab 2017 Apr 1;30(4):405-409. doi: 10.1515/jpem-2016-0178. PMID: 27658135
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
LaFranchi S
Thyroid 1999 Jul;9(7):735-40. doi: 10.1089/thy.1999.9.735. PMID: 10447022

Clinical prediction guides

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
Rurale G, Marelli F, Duminuco P, Persani L
Thyroid 2020 Feb;30(2):277-289. Epub 2020 Jan 27 doi: 10.1089/thy.2019.0196. PMID: 31797737
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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