LATE-ONSET 3-BETA-HYDROXYSTEROID DEHYDROGENASE-DEFICIENCY WITH VIRILIZATION INDUCED BY A LARGE OVARIAN-CYST

A midpubertal girl presented with secondary amenorrhea and a rapidly p rogressive deepening of her voice as the only signs of virilization. D iagnostic work-up yielded an extremely elevated plasma testosterone (2 89 ng/dl), low estradiol (29 pg/ml) levels and a large solitary cyst o f the right ovary, which was totally removed. Pathohistology was in ke eping with a granulosa cyst with mild luteinization. Normalization of testosterone (to 27.3 ng/dl) and estradiol (to 62 pg/ml) and resumptio n of regular menses after 2 months clearly indicated an autonomous fun ction of the cyst. A malignant tumor was unequivocally excluded. Basal and ACTH stimulated levels of adrenal androgens pointed to a late-ons et 3 beta-hydroxysteroid dehydrogenase deficiency, which per se is kno wn to induce polycystic ovarian changes, but to date has never been de scribed to be accompanied with a large and autonomous follicular cyst.