Illuminating congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) refers to a group of rare, genetic disorders that affect the functioning of the adrenal glands. For CAH Awareness Month, Dr Nicola Davies explores the current treatment options for CAH and any treatments on the horizon.

What causes CAH?

CAH disorders are the result of genetic mutations in specific genes that code for enzymes involved in the synthesis of cortisol and aldosterone. These mutations lead to an enzyme deficiency which causes decreased levels of cortisol and aldosterone and leads to an excess production of androgens. CAH disorders are inherited in an autosomal recessive manner, with carriers of the disease not usually displaying any signs or symptoms.