Screening for Non-classic Steroid 21-Hydroxylase Deficiency in Japanese Women with Infertility and/or Hyperandrogenism

Abstract

To identify patients with nonclassic steroid 21-hydroxylase deficiency, 137 Japanese women who visited our clinics because of infertility and/or hyperandrogenism were tested with adrenocorticotropin (ACTH) stimulation. In women with serum 17α-hydroxyprogesterone (17 OHP) values 60 min after ACTH administration higher than 5 ng/mL, ratios of 17-hydroxypregnanolone (5α) (17OH-PO) (5α) to the sum of tetrahydrocortisone (THE) and tetrahydrocortisol (THF) in 24-hour urine after ACTH-Z administration were determined. None of the women investigated showed any evidence of having the nonclassic form of this deficiency.