502 THE DETERMINATION OF 17 HYDROXYPROGESTERONE AND 17 HYDROXYPREGNENOLONE IN PATIENTS WITH ELEVATED ANDROGENS

Abstract

Inborn errors of steroidogenesis present either with the classic clinical findings of congenital adrenal hyperplasia (CAH) or, as more recently described, in women with the clinical findings associated with the polycystic ovarian syndrome (PCOS). The present study evaluated serum 17 hydroxyprogesterone (17 OH-Prog) and 17 hydroxypregnenolone (17 OH-Preg) levels in documented cases of 21 hydroxylase deficiency (untreated and treated patients), a male patient with 3 beta hydroxy steroid dehydrogenase deficiency (3 BHSD) and 14 adolescent females with hirsutism, oligomenorrhea and elevated androgens clinically diagnosed as having PCOS. The PCOS group was also studied with ACTH stimulation. In children with 21 hydroxylase deficiency, the 17 OH-Prog/17 OH-Preg ratio was always > 1. The 17 OH-Prog/17 OH-Preg ratio was < 1 in the patient with 3BHSD deficiency. In the females with PCOS, the baseline ratios of 17 OH-Prog/17 OH-Preg were < 1 in 10 of the 14 patients. In the 4 patients with a ratio > 1, 1 had a 17 hydroxyprogesterone response to ACTH similar to the patients with partial 21 hydroxylase deficiency. However she did not respond to glucocorticoid therapy. Of the 10 PCOS patients with a 17 OH-Preg ratio < 1, 2 had a 17 hydroxy pregnenolone response similar to patients with partial 3 BHSD deficiency. We did not find as high an incidence of late onset CAH in our patients presenting with apparent PCOS as reported in the adult literature. 17 OH-Prog/17 OH-Preg ratios did not correlate with response to glucocorticoids.