Congenital adrenal hyperplasia in adults

Abstract

Purpose of review: Patients born with congenital adrenal hyperplasia (CAH), the majority of which is 21-hydroxylase deficiency (21OHD), have been studied by pediatric endocrinologists for decades and treated successfully since the pioneering work of Lawson Wilkins. As is the case for other previously fatal diseases of childhood, such as type 1 diabetes mellitus and cystic fibrosis, these children are now surviving into adulthood. This success has created a new clinical entity, for which the natural history and optimal management strategies are not known.

Recent findings: Longitudinal and cross-sectional studies of adults with CAH have begun to emerge from a few centers. The major challenges faced by these patients include infertility, neoplasia, and consequences of chronic glucocorticoid therapy.

Summary: The treatment goals of the adult with CAH differ from those for children, and data from specialized centers have identified some of the major issues guiding management. More data and better therapies for these patients are sorely needed.