睾丸女性化综合征是男性假两性畸形的一种,患者具有睾丸而表现型却为女性。现报道一例完全型睾丸女性化综合征。奚××,19岁,未婚。住院号350926。因原发闭经和腹股沟肿块而就诊。体检:身高1.66m,女性表现型,无喉结、胡须。乳房发育良好。双侧腹股沟肿块约6×5×3cm大小,质柔软可活动。无阴、腋毛。妇科检查:外阴及阴蒂均正常,阴道为7cm盲端,无宫颈,未扪及子宫。实验室检查:尿17-酮23.1mg/24h,尿17-羟2.8mg/24h,尿FSH<6子宫单位/24h,血LH2ng/ml,血浆睾酮800ng/100ml。细胞遗传学检查:颊粘膜涂片X染色质阴性,外周血细胞染色体G带分析核型为46XY(图1,见封二),C带分析可见明显的Y染色体。骨盆X线检查:女性形态。气腹造影未见子宫及附件影。静脉肾盂造影:泌尿系 Testicular feminization syndrome is a form of male pseudohermaphroditism, in which patients have testicles and phenotypes are female. Reported a case of complete testicular feminization syndrome. Xi × ×, 19 years old, unmarried. Hospital number 350926. Due to primary amenorrhea and groin mass and treatment. Physical examination: height 1.66m, female phenotype, no throat, beard. Breasts develop well. Bilateral inguinal masses about 6 × 5 × 3cm size, soft and flexible activities. No shade, armpit hair. Gynecological examination: vulva and clitoris are normal, vaginal 7cm blind end, no cervix, not palpable uterus. Laboratory tests: urine 17-ketone 23.1mg / 24h, urine 17-hydroxy 2.8mg / 24h, urinary FSH <6 uterine unit / 24h, blood LH2ng / ml, plasma testosterone 800ng / 100ml. Cytogenetic examination: X-ray was negative in the buccal mucosa smear, and the karyotype in the G-band of the peripheral blood cells was 46XY (Figure 1, see seal 2). The C-band analysis revealed a clear Y chromosome. Pelvic X-ray examination: female form. No evidence of pneumoperitoneum and annex shadow. Intravenous pyelography: urinary tract