Fragile X-associated primary ovarian insufficiency (FXPOI)

Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition affecting women with a specific gene change called the FMR1 premutation. This change can lead to decreased ovarian function, causing menopause to occur earlier than usual, often before age 40. Women with FXPOI may experience irregular or absent periods, fertility challenges, and symptoms related to low estrogen levels, such as hot flashes and vaginal dryness. It is a genetic condition linked to fragile X syndrome, a common inherited intellectual disability. Management involves hormone therapy and fertility counseling to address symptoms and reproductive concerns.