A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation.

A 31-yr-old woman presenting with a history of hirsutism, amenorrhea, and infertility was previously assumed to have polycystic ovary syndrome. A new gynecological-endocrine evaluation demonstrated elevated testosterone/SHBG ratio, serum 17-hydroxyprogesterone (17-OHP), and urinary pregnantriol. She was diagnosed with non-classic congenital adrenal… CONTINUE READING