Ovotesticular disorder of sex development (OT-DSD) is a condition in which, both testicular tissue and ovarian tissue are co-existent in the same gonad (ovotestis) or independently in separate gonads characterizing th...
性发育异常(disorders of sex development,DSD)是一类临床表型异质性很强的疾病,患病率为1/5000~1/4500。根据国际分类标准,按照染色体核型分类,DSD分为性染色体DSD、46,XY DSD和46,XX DSD,仅35%~45%的46,XY DSD患者和10%的46,XX DSD...
the Declaration of Helsinki and the standard investigation protocols of the Institutional Ethical Committee for Investigation in Humans of the INCMNSZ(No.BRE-2614-18-21-1).
Steroidogenic factor 1(SF1/NR5A1;nuclear receptor subfamily 5 group A member 1)is an essential orphan protein involved in gonadal embryogenesis,sex determination,and reproductive endocrinology.
卵睾型性发育异常(ovo-testicular disorders of sex development,OT-DSD)是指同一个体内具有卵巢和睾丸两种性腺组织,且两种性腺都有一定程度功能[1]。发病率相对较低,约为新生儿的1/10万[2],占所有DSD病例的3%~10%[3-5]。本文报道1例...
Sex development anomalies represent a group of congenital pathologies in which chromosomal, gonadal and anatomical sex differentiation is atypical. The aim of our study was to use molecular biology techniques to eluci...