Abstract
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.
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Hale, P., Hopwood, N., Beitins, I. et al. 112 ACQUIRED PARTIAL 21-HYDROXYLASE DEFICIENCY IN A GIRL WITH PEUTZ-JEGHERS SYNDROME (PJS). Pediatr Res 19, 622 (1985). https://doi.org/10.1203/00006450-198506000-00132
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DOI: https://doi.org/10.1203/00006450-198506000-00132