생식기 모호증의 병인에 대한 임상적 고찰
Clinical Review of the Etiologic Factors in Patients with Aambiguous Genitalia
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목적 : 생식기 모호증을 주소로 서울아산병원을 내원한 환자들을 대상으로 그 병인에 대한 분석을 하였다. 연구 방법 : 1989년 1월에서 2002년 12월까지 생식기 모호증으로 진단 받은 58명을 대상으로 하였고, 잠복고환이나 요도밑열림증만 존재하거나 여러 장기를 포함하는 선천성 기형이 동반된 경우는 제외하였다. 결과 : 전체 58명의 환자가 포함되었는데, 선천성부신과형성증이 18명 (31.0%)으로 가장 많았고, 불완전남성호르몬무감응증후군이 16명 (27.6%), 진성반음양증이 9명 (15.5%), 혼합성선발생장애가 5명 (8.6%)이었다. 생식기 모호증 환자의 표현형으로는 요도밑열림증 (52.5%), 음핵비대증 (47.5%), 양측 서혜부에서 만져지는 성선 (45.8%), 두갈래음낭 (23.7%), 음경음낭자리바뀜증 (22%), 잠복고환증 (18.6%), 질 벽 이상 (10.2%), Müllerian remnant (3.4%)가 존재하였다. 핵형 검사상 46XX, 46XY, and Y-함유 섞임증이 각각 24, 22, 9명에서 확인되었다. 선천성부신과형성증 환자 18명은 모두 21-hydroxylase deficiency 형이었으며, 16명의 남성호르몬무감응증증후군은 모두 불완전형 (partial type) 이었다. 결론 : 본 연구의 소견은 한국인 생식기 모호증 환자의 병인에 외국과는 인종적 차이가 있을 가능성이 있음을 시사한다.
Abstract
Objective : To review and evaluate the etiologic factors in patients with ambiguous genitalia Methods : We reviewed the medical records of the patients in whom ambiguous genitalia was identified in Asan Medical Center from Jan, 1989 to Dec, 2002. Patients with isolated cryptorchidism, isolated hypospadias, or congenital fatal anomalies involving multiple organs were excluded in our series. Results : A total of 58 cases were evaluated. The most common cause was congenital adrenal hyperplasia (CAH) (18 cases, 31.0%), followed by partial androgen insensitivity syndrome (AIS) (16 cases, 27.6%), true hermaphroditism (9 cases, 15.5%), and mixed gonadal dysgenesis (5 cases, 8.6%). Morphologic abnormalities observed in patients with ambiguous genitalia were hypospadias (52.5%), clitoromegaly (47.5%), palpable gonads (45.8%), bifid scrotum (23.7%), penoscrotal transposition (22%), cryptorchidism (18.6%), vaginal wall abnormality (10.2%), and Müllerian remnant (3.4%). By karyotyping, 46XX, 46XY, and Y containing mosaicism were found in 24, 22, and 9 patients, respectively. All of the 18 patients with CAH were found to have 21-hydroxylase deficiency and all cases of androgen insensitivity syndrome were partial type. Conclusion : These findings suggest that etiologic background might be different in patients with ambiguous genitalia in Korea.
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