< em > TSHR < /em > Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism

CONCLUSIONS: We found a high frequency of TSHR variants in Chinese patients with CH (12.3%), and 4.9% of cases were caused by TSHR biallelic variants. Ten variants were identified as loss-of-function variants. The data suggest that the clinical phenotype of CH patients caused by TSHR biallelic variants is relatively mild. Our study expands the TSHR variant spectrum and provides further evidence for the elucidation of the genetic etiology of CH.PMID:38433572 | DOI:10.3343/alm.2023.0337

Source: Annals of Laboratory Medicine - March 4, 2024 Category: Laboratory Medicine Authors: Hai-Yang Zhang Feng-Yao Wu Xue-Song Li Ping-Hui Tu Cao-Xu Zhang Rui-Meng Yang Ren-Jie Cui Chen-Yang Wu Ya Fang Liu Yang Huai-Dong Song Shuang-Xia Zhao Source Type: research