男性假两性畸形——睾丸女性化是一种少见的遗传性疾病,在家族内发生者更鲜有报道.我院发现同一家族亲兄妹8人中2例畸形,现报道如下.例1 社会性别女,13岁.发现外阴异常13年.自幼以女孩抚养,无月经来潮.体检:呈女性体态,双乳发育欠佳,乳头内陷,女性外生殖器观,无阴毛生长,阴蒂稍大,其下方可见尿道外口,小阴唇缺如,尿道外口后方发现有深2.5cm阴道盲袋,大阴唇两侧可触及蚕豆大小类圆形包块.性染色质阴性.核型 Male pseudohermaphroditism - Testicular feminization is a rare genetic disease, occurred in the family more rarely reported in our hospital found that the same family of 8 siblings in 2 cases of deformity, are reported below. Example 1 Gender Female, 13 years old. Found that the vulva abnormalities 13 years. Since childhood as a girl upbringing, no menstrual cramps. Physical examination: female body, poor development of breast milk, nipple retraction, female genital view, no pubic hair growth, Below the visible urethral orifice, labia minora missing, behind the urethral orifice was found 2.5cm deep vaginal blind pouch, both sides of the labia majora can reach the round-shaped mass of broad beans. Sexual chromatin negative. Karyotype