Congenital Adrenal Hyperplasia in Children: Pathophysiology, Diagnosis and Management

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroid synthesis. More than 90% of cases are caused by 21-hydroxylase deficiency (21OHD), which impairs cortisol and, in most severe forms, aldosterone production while driving excess adrenal androgen output. Untreated classic CAH can cause life-threatening adrenal crisis in the neonatal period and virilization of affected girls. To review the genetics, pathophysiology, clinical presentation, diagnosis, treatment and long-term issues of CAH in children, with emphasis on 21OHD.