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Fertility in patients with nonclassical congenital adrenal hyperplasia
Maria I New1, Lucia Ghizzoni2, Heino Meyer-Bahlburg3
1Division of Pediatric Endocrinology, Division of Genetics and Genomic Sciences, Mount Sinai Hospital, New York, New York.
Abstract:
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.
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