A Broken Pathway: Understanding Congenital Adrenal Hyperplasia in the Newborn.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that leads to the partial or complete deficiency of cortisol and aldosterone production from the adrenal glands. The lack of these key hormones can precipitate acute adrenal crisis during the newborn period. This disorder can further lead to the development of virilized female genitalia from exposure to increased levels of androgens during fetal development. Nonclassical CAH is a common autosomal disorder, affecting 1/200 live births. The classical form of CAH affects 1/10,000-16,000 live births. Infants affected by classic CAH manifest with severe complications and an increased mortality risk. Early identification of CAH is critical to prevent significant sequela of adrenal crisis and to support families of affected females as they work through decisions of gender assignment. Newborn and pediatric nurses, as well as advanced practice providers, should maintain an active working knowledge of CAH to identify affected individuals early, implement needed interventions, and support families through education.