性染色体構成XYの真性半陰陽

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A 12-year-old patient with ambiguous external genitalia was reported. The social sex of the patient was male. The external genitalia showed scrotal hypospadia with bifid scrotum and no left scrotal content. The urinary excretion of gonadotropin, 17-KS, 17-OHCS, estrogen, pregnanediol and pregnanetriol were under 8 muu/day, 3.3-5.0 mg/day, 1.3-2.1 mg/day, 5.0-9.0μg/day, 0.90-1.18 mg/day and 0.2-0.22 mg/day, respectively. At laparotomy no left testis was found in retroperitoneal cavity from inguinal ring up to renal hilum region. At the region of lateral wall of pelvic cavity a small ovary-like body, measuring 2.0×1.0×0.6 cm, fimbria and oviduct were found. At the middle point of retrovesical region the left oviduct fused with right seminal duct, making a small bicornate uterus which ended blindly at the perineal region. Histological examination of left gonad revealed an ovary with occasional primitive follicles and that of right gonad revealed relatively well developed testis. Chromosome examination showed a karyotype of 46/XY. From the results above mentioned it was notd that the diagnosis of this patient was a ture hermaphroditism with a karyotype of 46/XY.