性发育异常的基因诊断现状和研究进展

Current situation and research progress in genetic diagnosis of differences of sex development

性发育异常(DSD)是先天性改变引起的发育异常或变异,表现为性染色体、性腺或性激素性别不典型、不一致。DSD是一类临床表现类似的遗传性疾病,临床误诊率极高。通过基因检测能够明确病因,避免因血清化验、影像检查的局限性导致疾病误诊。本文对性发育的胚胎学和遗传学机制进行了描述,总结了近年来DSD不同疾病中的主要基因组发现,以期为DSD的临床诊断和遗传咨询提供更多参考。

Disorders or differences of sex development(DSD)are developmental abnormalities or variations caused by congenital changes,which are manifested as atypical and inconsistent sex chromosomes,gonads,or sex hormones.Their clinical manifestations are similar,leading to a high rate of clinical misdiagnosis.Genetic testing can identify the cause of the disease and avoid misdiagnosis due to the limitations of serum tests and imaging examinations.This article describes the embryological and genetic mechanisms of sexual development,and summarizes the major genomic discoveries in different diseases of DSD in recent years,to provide more references for clinical diagnosis and genetic counseling of DSD.