27th May 2025

Background

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders where inherited enzyme deficiencies impair cortisol production. The primary cause is 21-hydroxylase deficiency (21-HD) in 95% of cases, characterised by cortisol deficiency, androgen excess and there may or may not be aldosterone deficiency. hydroxysteroid dehydrogenase deficiency.