Prevalence of 3 beta-hydroxysteroid dehydrogenase-deficient nonclassic adrenal hyperplasia in hyperandrogenic women with adrenal androgen excess

OBJECTIVE: We sought to determine the prevalence of 3 beta-hydroxysteroid d ehydrogenase-deficient nonclassic adrenal hyperplasia among adult hyperandr ogenic women with dehydroepiandrosterone sulfate excess. STUDY DESIGN: Thirty consecutive hyperandrogenic women with hirsutism, olig omenorrhea, or both and dehydroepiandrosterone sulfate levels of >8.5 mu mo l/L and 24 control subjects were studied. Basal sex hormone binding globuli n, total and free testosterone, dehydroepiandrosterone sulfate, 17-hydroxyp rogesterone, and basal and 60-minute corticotropin-stimulated 17-hydroxypre gnenolone and dehydroepiandrosterone were measured, and the increment (chan ge from basal to 60-minute value) was calculated. RESULTS: Twenty-six (87%) and 25 (83%) of the 30 hyperandrogenic patients s tudied had 60-minute dehydroepiandrosterone and change in 0- to 60-minute d ehydroepiandrosterone levels greater than the mean + 2 SD of control subjec ts, respectively. Six (20%) and 6 (20%) of the 30 hyperandrogenic patients had 60-minute 17-hydroxypregnenolone and 0- to 60-minute change in 17-hydro xypregnenolone levels greater than the mean + 2 SD of control subjects, res pectively. However, none of the subjects had either 60-minute 17-hydroxypre gnenolone levels or 60-minute dehydroepiandrosterone levels or both associa ted with the diagnosis of genetically proved 3 beta-hydroxysteroid dehydrog enase deficiency (>5-fold of the control mean value). CONCLUSION: 3 beta-Hydroxysteroid dehydrogenase-deficient nonclassic adrena l hyperplasia is rare even among adult hyperandrogenic patients with adrena l androgen excess.