
CYP21A2
CYP21A2 is a gene that produces an enzyme called 21-hydroxylase, which plays a key role in producing important hormones like cortisol and aldosterone in the body. These hormones help regulate stress response, blood pressure, and salt balance. When CYP21A2 has mutations or is defective, it can lead to a condition called congenital adrenal hyperplasia (CAH), affecting hormone production. This may cause symptoms such as rapid development of puberty, irregular periods, and in some cases, issues with salt balance. Understanding CYP21A2 helps in diagnosing and managing these hormonal disorders.