The next 150 years of congenital adrenal hyperplasia

• Better steroid biomarkes might improve diagnosis and management of CAH.
• Improved treatments might allow good control of CAH with low glucocorticoid doses.
• The spectrum of mild or nonclassic CAH is known for most enzyme defects.
• Important modifier genes for CAH remain to be discovered.

Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment of CAH. In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess.

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