Different dysregulations in adrenal steroid biosynthesis as a prevalent cause of hyperandrogenism in women from southern Italy.

OBJECTIVE: To investigate the presence of a dysregulation in steroid biosynthesis in women from southern Italy. DESIGN: Controlled clinical study. SETTING: Normal and hyperandrogenic women referred to the Endocrinology Unit of Federico II University Medical School of Naples. PATIENT(S): One hundred fifty untreated young hyperandrogenic women and 50 normal age-matched women. INTERVENTION(S): Morning (basal) blood samples obtained in the early follicular phase and after a long (360 minute) ACTH stimulation test. MAIN OUTCOME MEASURE(S): The adrenal maximal response was calculated as stimulus under curve areas (AUCa), and all steroids were assayed using RIA methods. RESULT(S): A dysregulation of 21-hydroxylase was found in 22 patients (14.7%), with a prevalent increase of 17 alpha-hydroxyprogesterone AUC, whereas in 9 hirsute women (6%), there was a prevalent significant increase in 11-deoxycortisol AUC. In 5 women (3.3%), DHEA and DHEAS basal and AUCs plasma levels were increased, suggesting an impaired 3 beta-olo-dehydrogenase activity. The remaining 114 hyperandrogenic women (76%) compose the nonadrenal group, with a probable diagnosis of primitive functional ovarian hyperandrogenism. CONCLUSION(S): Considering the high prevalence of hirsutism and oligomenorrhea in our female hyperandrogenic population, we suggest an adrenal hyperresponsiveness likely due to a dysregulation in enzymes related to androgen adrenal steroidogenesis.