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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

Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.
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
DUOXS defects: Genotype-phenotype correlations.
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
Congenital hypothyroidism: etiologies, diagnosis, and management.
LaFranchi S
Thyroid 1999 Jul;9(7):735-40. doi: 10.1089/thy.1999.9.735. PMID: 10447022

Recent clinical studies

Etiology

Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening.
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
Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders.
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
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Update on some aspects of neonatal thyroid disease.
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
Update of newborn screening and therapy for congenital hypothyroidism.
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

Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.
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
Congenital Hypothyroidism: Screening and Management.
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
Congenital Hypothyroidism: Screening and Management.
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
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.
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

Therapy

Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.
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
Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening.
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
Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.
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
Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders.
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
Update on some aspects of neonatal thyroid disease.
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

Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.
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
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Hypothyroidism in the newborn period.
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
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H, Refetoff S
Curr Opin Pediatr 2011 Aug;23(4):421-8. doi: 10.1097/MOP.0b013e32834726a4. PMID: 21543982Free PMC Article
Congenital hypothyroidism: etiology.
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

Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.
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
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders.
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
DUOX Defects and Their Roles in Congenital Hypothyroidism.
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
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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