XX男性或性反转综合征是一罕见疾病,在成年本病可合并性机能减退和不孕,有时在新生儿表现性别模糊.在儿童期被诊断患者仅占20%.病例报告:一位39岁西班牙产妇.因高龄初产做产前羊膜穿刺,提示胎儿16,XX核型.生后体检显示严重痛性勃起,阴茎长度3.5cm,尿道外口位于龟头,阴囊内可触两个睾丸.颊涂片在30%细胞中显示Barr小 XX Male or sexual inversion syndrome is a rare condition that can be combined with sexual dysfunction and infertility in adults, sometimes in neonates with obscure gender. Only 20% are diagnosed in childhood. Case Presentation: One 39-year-old Spanish maternal age due to early primiparous prenatal amniocentesis, suggesting fetus 16, XX karyotype after birth physical examination showed severe pain, penis length 3.5cm, the urethral orifice in the glans, the scrotum can touch two testicles Buccal smears showed small Barr in 30% of cells