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.
Fertility and sterility. 2019 Jan [Epub]
Maria I New, Lucia Ghizzoni, Heino Meyer-Bahlburg, Ahmed Khattab, David Reichman, Zev Rosenwaks
Division of Pediatric Endocrinology, Division of Genetics and Genomic Sciences, Mount Sinai Hospital, New York, New York. Electronic address: ., Division of Endocrinology, Diabetology and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy., New York State Psychiatric Institute, Vagelos College of Physicians & Surgeons of Columbia University, New York, New York., Division of Pediatric Endocrinology, Division of Genetics and Genomic Sciences, Mount Sinai Hospital, New York, New York., Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medical College, New York, New York.