112 ACQUIRED PARTIAL 21-HYDROXYLASE DEFICIENCY IN A GIRL WITH PEUTZ-JEGHERS SYNDROME (PJS)

A 12 yo gypsy girl with PJS s/p resection of adenocarcinoma of the colon at age 4 presented with hirsutism and menorrhagia of 9 months duration. Menarche occurred at age 10 initially with regular periods. Previous reports of an increased incidence of gonadal as well as GI neoplasms in PJS prompted a thorough investigation. Thyroid function was normal. A small left ovarian cyst was present by pelvic ultrasound. No ovarian/adrenal masses were present on abdominal CT scan. ACTH stimulation test (0.25 mg IM) and dexamethasone suppression test (0.5 mg po q 12h × 5d) showed: The basal Δ5-17-OHP, 17-OHP, Δ4A and DHEA-S were elevated. Low ratios of Δ5 17-OHP/17-OHP (0.5) and DHEA/Δ4A (2.8) as well as high response of 17-OHP and Δ4A to ACTH were diagnostic of partial 21 hydroxylase deficiency. Suppression of adrenal steroids by dexamethasone further supported this diagnosis.