混合型性腺形成不全症の1例

MIXED GONADAL DYSGENESIS: A CASE REPORT

　外性器異常を認める45歳の女性が脳出血のため入院した。外性器の所見では陰茎様の陰核肥大，陰嚢様の大陰唇，会陰部に開口した外尿道口を認めたが，腟口は認めなかった。陰嚢様大陰唇の内容は欠如していた。睾丸様腫瘤を右側鼠径部に触知したため性腺摘除術を施行した。病理組織学的検査の結果，混合型性腺形成不全症と診断した。本症例では試験開腹が未施行のため真性半陰陽の可能性もある。

A 45-year-old woman with ambigous external genitalia was admitted to the hospital because of cerebral hemorrhage. The external genitalia showed clitorial hypertrophy like a penis, labia major like a scrotum, and an external urethral meatus in the perineal region, whereas a vagina was absent. Although contents of the labia major were absent, a testicular-like mass was palpable at the right inguinal region. The patient underwent gonadectomy. Histological examination led to the diagnosis of mixed gonadal dysgenesis. Because exploratory laparotomy has not been performed, the possibility of true hermaphroditism can not be exculud-ed.