How does CYP21A2 Mutation Affect Female Reproductive Health?
Mutations in the CYP21A2 gene can lead to an enzyme deficiency, causing an accumulation of precursor hormones that are converted into androgens. Elevated levels of androgens can result in virilization, which may manifest as hirsutism (excessive hair growth), amenorrhea (absence of menstruation), and polycystic ovary syndrome (PCOS)-like symptoms. These conditions can impact a woman's reproductive health and her ability to conceive.
