Glossary -   21-hydroxylase deficiency

 

 

This is the most common type of inherited enzyme deficiency causing congenital adrenal hyperplasia (CAH). Children who are completely missing this enzyme, or have very little working enzyme, usually have the ‘salt-wasting’ form of classic CAH. Children who have a reduced level of 21-OH but still make some of this enzyme usually have the ‘simple-virilizing’ form of classic CAH.