Congenital Adrenal Hyperplasia

Hedi L Claahsen-van der Grinten, Phyllis W Speiser, S Faisal Ahmed, Wiebke Arlt, Richard J Auchus, Henrik Falhammar, Christa E Flück, Leonardo Guasti, Angela Huebner, Barbara B M Kortmann, Nils Krone, Deborah P Merke, Walter L Miller, Anna Nordenström, Nicole Reisch, David E Sandberg, Nike M M L Stikkelbroeck, Philippe Touraine, Agustini Utari, Stefan A Wudy, Perrin C White
Endocrine Reviews, Volume 43, Issue 1, February 2022, Pages 91–159
https://doi.org/10.1210/endrev/bnab016

Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000, there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in CAH with special attention to these new developments.

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