FXPOI: Fragile X Premature Ovarian Insufficiency

Women who are premutation carriers of Fragile X may experience FXPOI. This condition can present with milder symptoms such as irregular menstrual cycle or there might be a more severe presentation such as early menopause.

There is evidence to show that some premutation carriers will experience menopause around 5 years earlier than women in the general population. There are a few premutation carrier women who have their menopause in their 20’s or 30’s although this is rare. This is an early menopause or it might be referred to as Primary Ovarian Failure or POF.

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Symptoms of FXPOI include

  • Irregular or altered periods or menstrual cycle.

  • Hormone changes.

  • Difficulty getting pregnant.

  • Symptoms of the menopause.

FXPOI is different from the menopause because women can still get pregnant. This is because their periods may be irregular, but they have not stopped. It is believed that around 20% of female premutation carriers develop symptoms of FXPOI.

These difficulties can make planning to start a family harder. It’s also important to remember that women experiencing menopausal symptoms will also experience the medical problems associated with the menopause. Women who are premutation carriers and who are concerned should seek medical advice from their GP.  Please download our leaflet to take with you on your visit.  You can also contact the Fragile X Society for more detailed information about the health and reproductive options for women who are premutation carriers.