46,X,psu dic(X),rea(X;X) (pter→cen→q28::q24→pter)性腺发育不全在国内外很少见。我室于1987年4月检出1例。患者,女,24岁,未婚,因原发闭经就诊。患者系第1胎,足月顺产,智力发育正常。出生时父母年龄均为20岁,非近亲婚配,母孕期健康。患者同胞4人,其妹16岁行经,无类似家族史。体检:身高156cm,体重49kg,无蹼颈及肘外翻,乳头距宽,乳房发育欠 46, X, psu dic (X), rea (X; X) (pter → cen → q28 :: q24 → pter) Gonadal hypoplasia is rare at home and abroad. My room in April 1987 detected 1 case. Patient, female, 24 years old, unmarried, due to primary amenorrhea. The patient is the first child, full-term natural delivery, mental development is normal. Parents were born at the age of 20 years of age, non-relatives marriage, mother’s health during pregnancy. 4 siblings of patients, their sisters 16-year-old menstruation, no similar family history. Physical examination: height 156cm, weight 49kg, no webbed neck and elbow valgus, wide nipple, breast development