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患者1:20岁、身高165cm,体重64kg,社会性别女,未婚,因无月经而就诊。体格检查:喉结隆起,伴腭裂,发音不清。乳房扁平,外阴女性,阴毛呈女性分布,阴蒂稍大,前庭纵裂,尿道下裂开口于会阴部,大阴唇处可扪及圆形肿块,约2.5×3.0cm,质韧,术后病理检查为睾丸组织,曲细精管及副睾基底膜增厚,生精细胞少,曲细精管副睾腔内无精子。B超盆腔探查:未见子宫声像图。实验室激素测定17—羟、17—酮在正常范围内。血F~oH—RIA12mlu/mL,LH—RIAgmlu/mL,T—RIA25pg/mL,E_2—RIA30pg/mL。细胞遗传学检查:染色体核型为46,xy。
Patient 1:20 years old, height 165cm, weight 64kg, gender, unmarried, because no menstruation and treatment. Physical examination: Adam’s apple bulge, with cleft palate, unclear pronunciation. Flat breasts, vulva women, pubic hair were female distribution, clitoris slightly larger, vestibular longitudinal split, hypospadias open in the perineum, labia majora palpable circular mass, about 2.5 × 3.0cm, quality and tough, postoperative pathology Check for testicular tissue, seminiferous tubules and epididymal basement membrane thickening, fewer spermatogenic cells, seminiferous tubules within the testis without sperm. B ultra-pelvic exploration: no sonogram. Laboratory hormone determination of 17-hydroxy, 17-ketone in the normal range. Blood F ~ oH-RIA12mlu / mL, LH-RIAgmlu / mL, T-RIA25pg / mL, E_2-RIA30pg / mL. Cytogenetic examination: chromosome karyotype 46, xy.