Genetics and pathophysiology of congenital adrenal hyperplasia

Abstract

The congenital adrenal hyperplasias are a group of autosomal recessive disorder. The most common form is 21-hydroxylase deficiency (21-OHD) associated with mutations in the 21-hydroxylase (CYP21A2) gene. The manifestations of 21-OHD range from the classic forms presenting in the neonatal period to milder forms presenting in adulthood. The pathophysiology is due to loss of function mutations leading to cortisol deficiency, increased ACTH secretion, and subsequent increased adrenal androgen secretion. Optimal care for patients with 21-OHD spans their lifetime with the involvement of pediatric and adult healthcare providers.