中国实用儿科杂志2025，Vol.40Issue(3)：261-264,4.DOI:10.19538/j.ek2025030613
NR5A1基因突变致46,XY性发育异常1家系临床分析
Abnormal 46,XY sexual development caused by NR5A1 gene mutation:analysis of the clinical manifestations of a family
摘要
Abstract
Mutations in the NR5A1 gene are a frequent cause of 46,XY disorders of sex development.This article retrospectively analyzes the clinical data of a family affected by 46,XY disorder of sex development due to NR5A1 gene mutations and reviews relevant literature.A 2-year-old child,initially identified as female at birth,presented with"ambiguous external genitalia for 1 year"and was subsequently diagnosed with micropenis,hypospadias,and cryptorchidism.There was no abnormal adrenal phenotype.Genetic testing revealed a heterozygous missense mutation p.(Arg84Gly)in the NR5A1 gene.Further genetic analysis confirmed that the mutation was inherited from the child's mother and was also present in the child's elder brother and sister,each displaying varying clinical manifestations.Heterozygous mutations in the NR5A1 gene are a common cause of 46,XY disorders of sex development,and individuals with the same NR5A1 gene variant may exhibit diverse clinical phenotypes,complicating the correlation between genotype and phenotype.Treatment plans should be determined by healthcare professionals and patients together,taking into account the child's age,gender identity,and the severity of external genitalia abnormalities.关键词
46,XY/性腺发育异常/尿道下裂/类固醇生成因子1/NR5A1Key words
46,XY/disorders of sex development/hypospadias/steroidogenic factor 1/NR5A1分类
医药卫生引用本文复制引用
马士凤,韩欣怡,李易霖,刘笑孝,祁滢伊,郑荣秀..NR5A1基因突变致46,XY性发育异常1家系临床分析[J].中国实用儿科杂志,2025,40(3):261-264,4.基金项目
天津市医学重点学科(专科)建设项目(TJYXZDXK-068C) （专科）
天津市科学技术局项目(22KPHDRC00120) （22KPHDRC00120）
天津市卫生健康委卫生健康科技项目(TJWJ2022XK008) （TJWJ2022XK008）
天津医科总医院项目(22ZYYLCCG03) （22ZYYLCCG03）
