Mutations in the CYP21A2 gene are a common cause of Congenital Adrenal Hyperplasia (CAH), a group of inherited disorders affecting the adrenal glands. CAH can lead to a variety of gynecological issues, particularly in females, such as ambiguous genitalia, menstrual irregularities, and fertility problems. Understanding the role of this gene helps in diagnosing and managing these conditions effectively.
