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

作　　者：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 

机构地区：[1]Department of Pediatrics,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,No.197,Ruijin 2nd Rd,Huangpu District,Shanghai 200025,China [2]Department of Pediatric Genetic and Metabolic Endocrinology,West China Second University Hospital,Sichuan University,No.20,Section 3,Renmin South Road,Sichuan 610041,China [3]Department of Endocrine and Metabolic Diseases,Shanghai Clinical Center for Endocrine and Metabolic Diseases,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China [4]Cancer Center,School of Medicine,Shanghai Tenth People’s Hospital,Tongji University,Yanchang Zhong Lu 301St Rd,Jing’an District,Shanghai 200031,China

出　　处：《World Journal of Pediatrics》2024年第4期422-433,共12页世界儿科杂志（英文版）

摘　　要：Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of nonclassical 21-hydroxylase deficiency.For this study,we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature,which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal hyperplasia.Methods Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively analyzed.We examined the effects of gene mutations on protease activity and constructed threedimensional structure prediction models of proteins.Results We describe 10 patients with 11beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel mutations were reported.Female patients received treatment at an early stage,with an average age of 2.08±1.66 years,whereas male patients received treatment significantly later,at an average age of 9.77±3.62 years.The most common CYP11B1 pathogenic variant in the Chinese population was found to be c.1360C>T.All mutations lead to spatial conformational changes that affect protein stability.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.

关 键 词：11β-hydroxylase deficiency CYP11B1 Enzymatic activity Phenotype-genotype correlation Threedimensional protein simulations 

分 类 号：R725.8[医药卫生—儿科]