[Late onset hyperandrogenism caused by 3-beta-hydroxysteroid dehydrogenase deficiency]

Clinical manifestations of hyperandrogenism, including hirsutism and acne with or without dysmenorrhoea are well recognized in late onset hyperandrogenism due to deficiency in 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD), yet the frequency of this deficiency in patients with post-puberty hirsutism is not well established. We therefore evaluated retrospectively this deficiency state in women who consulted our unit for manifestations suggestive of hyperandrogenism from 1990 to 1992.

We included 32 women with clinical manifestations of hyperandrogenism for whom a partial deficit in 3 beta-HSD could be searched for on the basis of hormone assays. Their mean age was 27.5 years (range 14 to 46) and the clinical manifestation was hirsutism in 21 cases, acne in 13, alopecia in 5 and dysmenorrhoea in 11. Diagnostic tests included adrenal stimulation with 0.25 mg beta 1-24 corticotrophin and immunoradioassay of plasma levels of 17-hydroxypregnenolone (17-OHPreg), 17-hydroxyprogesterone (17-OHP), dehydroepiandrosterone (DHA) and cortisol (F). Pang's criteria for the diagnosis of partial deficiency in 3 beta-HSD were retained. We defined deficiency in 3 beta-HSD as certain when the 4 following criteria were present 60 minutes after stimulation: 17-OHPreg > 17.5 ng/ml; DHA > 20 mg/ml; 17-OHPreg/17-OHP > 9; 17-OHPreg/F.10(-3) > 53. Diagnosis was considered probable when only 3 criteria were met and was excluded in all other cases.

Positive diagnosis of deficiency in 3 beta-hydroxysteroid dehydrogenase was made in 4 of the 32 patients and probable in 4 others.

Based on our series of patients, late onset hyperandrogenism due to 3 beta-hydroxysteroid dehydrogenase deficiency would thus appear to be a relative frequent deficiency state. Since therapeutic measures can be taken, this deficiency should be carefully searched for in all young patients presenting with manifestations suggesting hyperandrogenism.