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Congenital thyroid hypoplasia

MedGen UID:
83334
•Concept ID:
C0342153
•
Congenital Abnormality
Synonyms: Congenital Thyroid Gland Hypoplasia; Congenital Thyroid Hypoplasia; Thyroid Hypoplasia
SNOMED CT: Congenital thyroid hypoplasia (237516005)

Definition

Incomplete development of the thyroid gland in a newborn. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital thyroid hypoplasia

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

Therapy

Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
Nogueira CR, Nguyen LQ, Coelho-Neto JR, Arseven OK, Jameson JL, Kopp P, Medeiros-Neto GA
Thyroid 1999 Jun;9(6):523-9. doi: 10.1089/thy.1999.9.523. PMID: 10411113

Clinical prediction guides

Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
Nogueira CR, Nguyen LQ, Coelho-Neto JR, Arseven OK, Jameson JL, Kopp P, Medeiros-Neto GA
Thyroid 1999 Jun;9(6):523-9. doi: 10.1089/thy.1999.9.523. PMID: 10411113

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