Congenital Adrenal Hyperplasia Flashcards
1
Q
What is congenital adrenal hyperplasia (CAH)?
A
Congenital adrenal hyperplasia (CAH) is caused by a congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone and overproductionof androgens from birth.
In a small number of cases it is caused by a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.
2
Q
What main enzyme is deficient in CAH?
A
The 21-hydroxylase enzyme.
3
Q
What is the inheritance pattern of CAH?
A
It is a genetic condition that is inherited in an autosomal recessive pattern.
