Congenital adrenal hyperplasia (CAH) is a disorder of cortisol biosynthesis that is usually caused by a mutation in the gene that encodes steroid 21-hydroxylase. As this abnormality can lead to fatal shock, hyponatremia and hyperkalemia in early infancy, many countries include tests for CAH in their neonatal screening program. The author of this article provides an overview of the currently used methodologies for neonatal CAH screening and discusses their efficiency, limitations and cost-effectiveness.
