Dear Editor, 46,XY disorder of sex development （DSD） is characterized by a female phenotype in an individual with a normal 46,XY karyotype.1 The clinical phenotTpe of 46,XY DSD is characterized by bilateral undesce...Dear Editor, 46,XY disorder of sex development （DSD） is characterized by a female phenotype in an individual with a normal 46,XY karyotype.1 The clinical phenotTpe of 46,XY DSD is characterized by bilateral undescended testes and a normal female appearance, including breasts, female external genitalia, and other secondary sex characteristics, but the absence of a uterus or ovaries.2 Development of the male external genitalia in the fetal period depends on the biosynthesis of testosterone （T）, the conversion ofT into dihydrotestosterone （DHT） by steroid 5α-reductase type 2 （SRD5A2）, and the response of functionally active androgen receptors in genital tissues） The disruption of any of these stages will block the differentiation of internal and external genitalia and cause 46,XY DSD.展开更多
文摘Dear Editor, 46,XY disorder of sex development （DSD） is characterized by a female phenotype in an individual with a normal 46,XY karyotype.1 The clinical phenotTpe of 46,XY DSD is characterized by bilateral undescended testes and a normal female appearance, including breasts, female external genitalia, and other secondary sex characteristics, but the absence of a uterus or ovaries.2 Development of the male external genitalia in the fetal period depends on the biosynthesis of testosterone （T）, the conversion ofT into dihydrotestosterone （DHT） by steroid 5α-reductase type 2 （SRD5A2）, and the response of functionally active androgen receptors in genital tissues） The disruption of any of these stages will block the differentiation of internal and external genitalia and cause 46,XY DSD.
