类固醇5α-还原酶缺乏症(简称5α-RD)是一种先天性男性假两性畸形,过去被称为“假阴道性会阴阴囊型尿道下裂症”见诸报道。1974年分别在两个家系调查证实患者血浆睾酮正常,而二氢睾酮明显降低,说明缺陷在于靶器官细胞中5α-还原酶不正常,睾酮转变为二氢睾酮的机制发生障 Steroid 5α-reductase deficiency (referred to as 5α-RD) is a congenital males maternal bisexual deformity, in the past known as “false vaginal perineal scrotum hypospadias” have been reported. In 1974, respectively, in two families survey confirmed that patients with normal plasma testosterone, dihydrotestosterone was significantly reduced, indicating that defects in the target organ cells 5α-reductase abnormal testosterone into dihydrotestosterone mechanism of barrier