THE FREQUENCY OF LATE-ONSET 21-HYDROXYLASE AND 11-BETA-HYDROXYLASE DEFICIENCY IN WOMEN WITH POLYCYSTIC-OVARY-SYNDROME

Objective: To determine the frequency of late-onset adrenal hyperplasi a (LOCAH) due to 21-hydroxylase (21-OH) and 11 beta-hydroxylase (11 be ta-OH) deficiency in women with clinical and biochemical features of p olycystic ovary syndrome (PCOS). Design: Eighty-three consecutively se lected women with PCOS and eighteen normal women were included in the study. Methods: Ultrasound, clinical and hormonal parameters were used to define PCOS. Basal FSH, LH, testosterone, free testosterone, andro stenedione, dehydroepiandrosterone sulfate (DHEA-S), sex hormone-bindi ng globulin (SHBG) and cortisol levels were measured. Serum 17-hydroxy progesterone (17-OHP) and 11-deoxycortisol (11-DOC) levels were also m easured before, 30 and 60 min after a single bolus injection of 0.25 m g ACTH (1-24) at 0900 h during the mid-follicular phase of the cycle. ACTH-stimulated 17-OHP levels >30 nmol/l were considered as the criter ia of 21-OH deficiency. The diagnosis of 11 beta-OH deficiency was mad e if the adrenal 11-DOC response to ACTH stimulation exceeded threefol d the 95th percentile of controls. Results: Basal serum testosterone, free testosterone, androstenedione, DHEA-S, cortisol and 11-DOC levels were significantly higher in PCOS than in control subjects. ACTH-stim ulated 17-OHP (P < 0.05) and 11-DOC (P < 0.0005) levels were found to be significantly higher in patients with PCOS than in controls. Seven (8.4%) patients had an ll-DOC response to ACTH higher than threefold t he 95th percentile of controls, while no patients showed evidence of 2 1-OH deficiency. Conclusions: We have found that 8.4% of the women wit h clinical and biochemical features of PCOS could be presumed to have 11 beta-OH deficiency. No patients among the women with PCOS showed ev idence of 21-OH deficiency. 11 beta-OH deficiency is unexpectedly more common than 21-OH deficiency in women with PCOS.