Question

What is the genetic basis of Congenital Adrenal Hyperplasia? (250 words or less)

Answer 1

Congenital adrenal hyperplasia (CAH) refer group of autosomal recessive disorders due to single gene defects in the various enzymes required for cortisol biosynthesis.

It represents a continuous phenotypic spectrum with over 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is an important tool in confirming the diagnosis or carrier state, provides prognostic information on disease severity, and is essential for genetic counseling.

The genes for the various variants of CAH are well characterized, and mutation analysis is widely available.