Abnormal 46,XY sexual development caused by NR5A1 gene mutation:analysis of the clinical manifestations of a family
MA Shi-feng
HAN Xin-yi
LI Yi-lin
LIU Xiao-xiao
QI Ying-yi
ZHENG Rong-Xiu
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.
Keywords：46XYdisorders of sex developmenthypospadiassteroidogenic factor 1NR5A1
Publication Date：2025-03-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 261-264 )