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性腺发育不全(gonadal dysgenesis)是一种先天性性器官发育不全的性畸形。核型为45,XO;46,XY和46,XX的个体都可以发生性腺发育不全症。我们报导的患者为XY型单纯性性腺发育不全,且Y染色体的大小超过了正常范围。病史摘要患者,社会性别女性,36岁,已婚,患者为第一胎足月生产,其五个兄弟表型全部正常,且大弟、三弟、四弟都已结婚并有了孩子,表型也未发现异常。患者主诉,18岁时个子很矮,约140cm,重34kg,20岁后因原发闭经就医,用雌激素和黄体酮,阴道有少量流血,停药后流血
Gonadal dysgenesis is a form of congenital sexual dysplasia. Karyotype 45, XO; 46, XY and 46, XX can occur in individuals with gonadal dysgenesis. We reported patients with XY simple gonadal dysgenesis, and the size of the Y chromosome exceeded the normal range. Patient history, gender Female, 36 years old, married, first full-term birth of the patient, all five of his brother phenotypes are normal, and big brother, third brother, fourth brother are married and have children, table Also found no abnormalities. Patients complained that when the age of 18, he was short, about 140cm and weighs 34kg. After 20 years old, he had amenorrhea because of the primary amenorrhea. With estrogen and progesterone, there was a small amount of vaginal bleeding, bleeding after stopping