Fragile X-associated Primary Ovarian Insufficiency (FXPOI)

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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 five years earlier than women in the general population. Although rare, there are a few premutation carrier women who have their menopause in their 20’s or 30’s. This is an early menopause, or it might be referred to as Primary Ovarian Failure or POF.

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FXPOI Symptoms

 

• 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.

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These difficulties can make planning to start a family harder and it is 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. 

 

If you have any questions or would like to know more about FXPOI, please visit our dedicated resources page.