저자들은 표현형이 외견상 정상여성이고 일측에 색상생식선이 있었고 반대쪽에 생식아세포종 및 난소정상피종을 동반하였던 가족적으로 유전된 3 증례 및 양측에 색상생식선이 있었던 1예를 포함한 4예의 46, XY 순수생식선이형성증을 경험하였기에 이에 간단한 문헌고찰과 함께 보고하는 바이다.

Four cases of 46,XY pure gonadal dysgenesis,which were confirmed by the findings of gonads at laparoscopy, are described. The first three cases are siblings. All the patients and a normal male (46, XY) karyotype in the cytogenetic studies. Patient 1, aged 22, had a hypoplastic uterus, normal tubes, and bilateral streak gonads. Patient 2, aged 29, had a hypoplastic uterus, normal tubes, right streak gonad harboring gonadoblastoma and left gonadoblastoma overgrown dysgerminoma. Patient 3, aged 19, had a cord-like uterus, hypoplastic tubes, and right streak gonad and left goand harboring gonadoblastoma. Patient 4, aged 26, had a cord-like uterus, normal tubes, and bilateral streak goands. Gonadal streaks were extirpated in all the patients and total abdominal hysterectomy was also performed due to the malignant potential of the gonadoblastoma in patient 2.