Genetic variants in the CYP21A2 gene cause a disturbance in the development of the enzyme, leading to congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Gene conversion events involving the functional gene and the pseudogene account for many cases of steroid 21-hydroxylase deficiency.
Genetic variations in the CYP21A2 gene disrupt normal enzyme function, leading to CAH due to 21-hydroxylase deficiency. The occurrence of gene conversion between functional and pseudogenes contributes to the development of steroid 21-hydroxylase insufficiency.