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Congenital hypothyroidism with ectopic thyroid

MedGen UID:
90972
•Concept ID:
C0342155
•
Congenital Abnormality
Synonym: Congenital Hypothyroidism with Ectopic Thyroid
SNOMED CT: Congenital hypothyroidism with ectopic thyroid (215677009)

Definition

Thyroid hormone deficiency present at birth that is associated with ectopic thyroid tissue located in the neck region. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital hypothyroidism with ectopic thyroid

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
Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690Free PMC Article

Recent clinical studies

Etiology

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
Kizys MML, Louzada RA, Mitne-Neto M, Jara JR, Furuzawa GK, de Carvalho DP, Dias-da-Silva MR, Nesi-França S, Dupuy C, Maciel RMB
J Clin Endocrinol Metab 2017 Nov 1;102(11):4060-4071. doi: 10.1210/jc.2017-00832. PMID: 28666341

Diagnosis

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
Kizys MML, Louzada RA, Mitne-Neto M, Jara JR, Furuzawa GK, de Carvalho DP, Dias-da-Silva MR, Nesi-França S, Dupuy C, Maciel RMB
J Clin Endocrinol Metab 2017 Nov 1;102(11):4060-4071. doi: 10.1210/jc.2017-00832. PMID: 28666341

Prognosis

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
Kizys MML, Louzada RA, Mitne-Neto M, Jara JR, Furuzawa GK, de Carvalho DP, Dias-da-Silva MR, Nesi-França S, Dupuy C, Maciel RMB
J Clin Endocrinol Metab 2017 Nov 1;102(11):4060-4071. doi: 10.1210/jc.2017-00832. PMID: 28666341

Clinical prediction guides

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
Kizys MML, Louzada RA, Mitne-Neto M, Jara JR, Furuzawa GK, de Carvalho DP, Dias-da-Silva MR, Nesi-França S, Dupuy C, Maciel RMB
J Clin Endocrinol Metab 2017 Nov 1;102(11):4060-4071. doi: 10.1210/jc.2017-00832. PMID: 28666341

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    Practice guidelines

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