Current situation and research progress in genetic diagnosis of differences of sex development
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.
Disorders or differences of sex developmentGonadal differentiation and developmentGenetic testing
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维普
