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.
关键词
性发育异常/性腺分化与发育/基因检测
Key words
Disorders or differences of sex development/Gonadal differentiation and development/Genetic testing
维普
万方数据