Steroid cell tumor associated with primary amenorrhea and virilization

A 22-year-old woman sought medical advice because of primary amenorrhea and virilization that was manifested by facial hirsutism, temporal balding, and clitorimegaly. Plasma steroid levels were determined at the time of initial assessment; androstenedione and testosterone were increased in comparison with normal values. Vaginal ultrasonography revealed the presence of a mass localized to the right ovary. The patient underwent oophorectomy, and pathologic examination of the surgical specimen led to the identification of a steroid cell tumor associated with a polycystic ovary. Tumor steroid-metabolizing enzymes were evaluated in vitro: 17alpha-hydroxylase, 3beta-hydroxysteroid dehydrogenase/ delta5-->4-isomerase, 17beta-hydroxysteroid oxidoreductase, and 5a-reductase, which are required for androgen synthesis, were present in the tumor tissue. Postoperatively, plasma androstenedione and testosterone levels returned to normal. This study demonstrated that the tumor was the source of the increased levels of androgen precursor and androgen in this woman; excess tumor-derived androgen may have been the trigger in the development of the polycystic ovary.