Fertility in patients with nonclassical congenital adrenal hyperplasia
We discuss the history of nonclassical congenital adrenal hyperplasia as well as the pathophysiology, diagnosis, and treatment of the disorder.
Volume 111, Issue 1, Pages 13–20
Maria I. New, M.D., Lucia Ghizzoni, M.D., Ph.D., Heino Meyer-Bahlburg, Ph.D., Ahmed Khattab, M.D., David Reichman, M.D., Zev Rosenwaks, M.D.
Nonclassical congenital adrenal hyperplasia (NC-CAH) is by far a subtler and milder enzymatic defect to the classical form of the disease. A nuanced understanding of NC-CAH will lead to increased detection of the disorder in those initially misdiagnosed as having polycystic ovary syndrome, will assist in the detection of pregnancies at risk for severe genetic steroid disorders, and will facilitate appropriate ovulation induction and reduction in the hyperandrogenic symptoms which are a cornerstone of the disease. We describe the history of the disease as well as elucidate the pathophysiology, diagnosis, and treatment of the disorder.