Article
[Pathogenic TSHR variants in children with thyroid dysgenesis].
Problemy endokrinologii - 25 Feb 2023
Shreder E V, Vadina T A, Solodovnikova E N, Zakharova V V, Degtyarev M V, Konyukhova M B, Sergeeva N V, Bezlepkina O B
Abstract excerpt
BACKGROUND: Loss-of-function mutations in the TSH receptor gene (TSHR) (NP_000360.2) are the potential causes of thyroid dysgenesis in patients with congenital hypothyroidism. Heterozygous variants of the TSHR gene lead to partial resistance to TSH, homozygous and compound heterozygous variants have been shown to cause CH due to thyroid hypoplasia or TSH resistance. Recently more and more articles in this field...
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