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患者蒋××,21岁。主诉为原发闭经。父母健康,其母在怀患者孕期中经过正常;兄妹8人,2姐均已结婚、生育,一妹月经正常,家族中无明显遗传病史。体格检查:表型女性,身高175厘米,指距175厘米,血压120/70毫米汞柱。无喉结,发音女性,无颈蹼;腋毛稀少,乳房发育差,心肺正常。肛查:阴毛稀少,大小阴唇发育不良,阴道口无畸形,阴蒂未见肥大,子宫颈小,子宫婴儿型,二侧附件阴性,大阴唇及腹股沟部位均未扪及肿块。阴道涂片:雌激素水平中度低落。内分泌测定:尿17羟8.6毫克/24小时。17酮11.96毫克/24小时。促卵泡成熟激素>52.8小白鼠单位。X线气腹造影:盆腔二侧未见卵巢影像。细胞遗传学检查:口腔及阴道粘膜上皮细胞
Patient Chiang × ×, 21 years old. Chief complaint is primary amenorrhea. Parents healthy, pregnant mother in pregnant women through the normal pregnancy; siblings 8, 2 sister have married, fertility, a sister normal menstruation, the family no obvious genetic history. Physical examination: Phenotypic women, height 175 cm, finger pitch 175 cm, blood pressure 120/70 mm Hg. No throat knot, pronunciation of women, no neck webbed; rare armpit hair, poor breast development, normal heart and lung. Anal examination: pubic hair sparse, the size of the labia maladjustment, vaginal mouth no deformity, clitoris no hypertrophy, small cervix, uterus infants, bilateral attachment negative, labia majora and groin parts are palpable mass. Vaginal smear: moderate estrogen levels. Endocrine assay: Urine 17 hydroxy 8.6 mg / 24 hours. 17 ketone 11.96 mg / 24 hours. Follicle-stimulating hormone> 52.8 mouse units. X-ray pneumoperitoneum: no ovarian pelvis on both sides of the image. Cytogenetic examination: oral and vaginal mucosal epithelial cells