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

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

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Background The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of non-classical 21-hydroxylase deficiency.For this study,we investigated the relationship between the clinical and molecular fea-tures 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 three-dimensional structure prediction models of proteins.Results We describe 10 patients with 11 beta-hydroxylase gene mutations(n=5,46,XY;n=5,46,XX),with 10 novel muta-tions 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 manifes-tations.The correlation between genotype and phenotype needs further study.Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.

11β-hydroxylase deficiencyCYP11B1Enzymatic activityPhenotype-genotype correlationThree-dimensional protein simulations

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

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Department of Pediatrics,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,No.197,Ruijin 2nd Rd,Huangpu District,Shanghai 200025,China

Department of Pediatric Genetic and Metabolic Endocrinology,West China Second University Hospital,Sichuan University,No.20,Section 3,Renmin South Road,Sichuan 610041,China

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

Cancer Center,School of Medicine,Shanghai Tenth People's Hospital,Tongji University,Yanchang Zhong Lu 301 St Rd,Jing'an District,Shanghai 200031,China

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2024

10.1007/s12519-023-00739-1

世界儿科杂志(英文版)

世界儿科杂志(英文版)

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ISSN：
年,卷(期)：2024.20(4)
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