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本文报道了身材正常的的年龄为25和18岁的两姊妹,原发性闭经,外生殖器正常,第二性征缺乏。经临床、激素、细胞遗传学及病理学检查:外周血染色体核型正常,46,XX。25岁患者FSH67.9mU/ml(正常值5～25mU/ml);LH17.3mU/ml(正常范围5～25mU/ml);尿中雌激素2.9μg/24h(月经周期的卵泡期正常值4～25μg/24h)。其妹FSH118.9mU/ml;LH41mU/ml;尿中雌激素量5.7μg/24h。两患者都做腹腔镜检查和性腺组织活检,都是条索状性腺、发育不全的子宫和输卵管。对条索状
This article reports two normal sisters aged 25 and 18 years old with normal primary amenorrhea and external genitalia and a lack of secondary sexual characteristics. The clinical, hormonal, cytogenetic and pathological examination: normal peripheral blood chromosome karyotype, 46, XX. 25-year-old patients with FSH67.9mU / ml (normal 5 ~ 25mU / ml); LH17.3mU / ml (normal range of 5 ~ 25mU / ml); urinary estrogen 2.9μg / 24h (menstrual cycle normal follicular phase 4 ~ 25 μg / 24h). His sister FSH118.9mU / ml; LH41mU / ml; urinary estrogen amount of 5.7μg / 24h. Both patients underwent laparoscopy and gonad biopsy, which were cord-like gonads, hypoplasticized uterus and fallopian tubes. The cord-like