The incidence of non-classical 21-hydroxylase deficiency in hirsute adolescent girls

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Abstract
Non-classical adrenal hyperplasia due to 21-hydroxylase enzyme deficiency (NC21OHD) causes hirsutism, acne and menstrual irregularities in women. Clinically, patients with NC21OHD may be indistinguishable from other hyperandrogenic women, as they all present with similar symptoms. An elevated response of cortisol precursors like 17 alpha-hydroxyprogesterone (17-OHP) to ACTH stimulation is a valuable diagnostic criteria. In this study, 32 hirsute adolescent girls, aged 13-19 years, underwent i.v. adrenocorticotrophic hormone (ACTH) (Synacthen 0.25 mg) stimulation test. The results were compared with those of the controls. The plasma levels of 17 alpha-hydroxyprogesterone, cortisol, dehydroepiandrosterone sulphate (DHEA-S), androstenedione, testosterone, follicle stimulating hormone (FSH), luteinizing hormone (LH) and prolactin were established before, and 60 min after the infusion of ACTH to both patients and controls. Six patients demonstrated an increase in both the 17 alpha-hydroxyprogesterone levels and the 17 alpha-hydroxyprogesterone/cortisol ratio on ACTH stimulation, almost twice that of the mean +/- 2SD in the control group and ten times that in one patient. Six patients with abnormal elevation of 17 alpha-hydroxyprogesterone were considered heterozygotes for 21-hydroxylase enzyme deficiency, and one patient was presumed to have NC21OHD. Human leukocyte antigen (HLA) analysis supported these diagnoses. In this study, the incidence of NC21OHD in hirsute adolescent girls in our population was investigated, and NC21OHD was found in only one of 32 patients.