Pure Gonadal Dysgenesis with Progressive Hirsutism

Abstract

A 24-year-old woman with pure gonadal dysgenesis was evaluated to determine the cause of progressive hirsutism. Plasma testosterone levels (0.06 to 0.15 μg per 100 ml) ranged from the upper limit of normal (for adult females) to elevated. The plasma androstenedione level (0.18 μg per 100 ml) was normal. Plasma testosterone fell to 0.03 μg per 100 ml in response to gonadotropin suppression with estrogen but did not respond to ACTH suppression or stimulation. A threefold gradient of testosterone concentration between the gonadal and peripheral vein blood confirmed the streaks as the source of excess androgen. Cytogenetic studies of leukocytes and both gonadal streaks showed 46 chromosomes with an XX sex-chromosome constitution. Histologic studies of the streaks revealed the presence of hilus cells and luteinized gonadal stromal cells. Estrogen deficiency apparently caused elevation of endogenous gonadotropin, which in turn stimulated excess androgen production by gonadal-streak tissue.