Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

CONCLUSIONS: Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations. Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations. The correlation between genotype and phenotype needs further study. Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.PMID:37486441 | DOI:10.1007/s12519-023-00739-1

Source: World Journal of Pediatrics : WJP - July 24, 2023 Category: Pediatrics Authors: Wen-Li Lu Xiao-Yu Ma Jiao Zhang Jun-Qi Wang Ting-Ting Zhang Lei Ye Yuan Xiao Zhi-Ya Dong Wei Wang Shou-Yue Sun Chuan-Yin Li Rong-Gui Hu Guang Ning Li-Dan Zhang Source Type: research