불완전 고환성 여성화 증후군 1 예 = A Case of Incomplete Testicular Feminization Syndrome

국문 초록 (Abstract)

본 중앙대학교 의과대학 산부인과학교실에서는 임상증상 및 내분비학적 검사로 진단된 불완전 고환성 여성화 증후군 1예를 경험 하였기에 간단한 문헌고찰과 함께 이를 보고하는 바이다.

다국어 초록 (Multilingual Abstract)

Incomplete testicular feminization syndrome is an ill-defined designation used to lescribe a heterogenous group of patients with an atypical form of testicular feminization. As in complete testicular feminization syndrome, the karyotype is XY, bilateral testes and other male internal genitalia are present, and mullerian derivatives are absent; however, unlike individuals with the complete testicular feminization syndrome, the external genitalia are ambiguous rather than that of female and some degree of virilization such as clitorial hypertrophy, partial labioscrotal fusion and hirsutism occurs at puberty. Complete and incomplete testicular feminization syndrome have been shown to be a disorder of androgen receptor function or genomic expression perse. More than 200 cases, complete and incomplete type, have been reported in the world. In our country, four cases of complete type have been reported up to present. We first report a case of incomplete testicular feminization syndrome with the brief review of literatures.