Steroid production in a woman with gonadal dysgenesis, breast development, and clitoral hypertrophy

Androgen and estrogen production was measured in a 46,XX woman with gonadal dysgenesis, breast development, and clitoral hypertrophy. The production rates of androstenedione (438 μg/24 hr), estrone (26 μg/24 hr), and estradiol-17β (13 μg/24 hr) were low compared to values obtained in normal young women. The production rate of testosterone (239 μg/24 hr) was similar to that of normal women. Bilateral nodular streaks were found in the usual anatomic site occupied by ovaries. By microscopic examination of the streaks, fibrous tissue containing nests of hilar cells was found. The karyotype of skin, peripheral leukocytes, and gonadal streak fibroblasts in culture was 46,XX. The possible causes and implications of breast development and clitoral enlargement in subjects with gonadal dysgenesis are discussed.