FXPOI

Some female Fragile X premutation carriers may experience Fragile X-associated Primary Ovarian Insufficiency (FXPOI), a condition which can lead to infertility and early menopause.

Primary Ovarian Insufficiency (POI) is a condition in which the ovaries stop functioning normally in a woman younger than age 40. Common symptoms of POI include absent or irregular periods and infertility.

POI is not menopause, even though women with POI may develop symptoms similar to those of menopause, such as hot flushes and vaginal dryness.

POI differs from menopause in some important ways:

Women with POI can still get pregnant in some cases because their ovaries may function irregularly to release viable eggs whereas women who have completed menopause cannot fall pregnant because their ovaries no longer release eggs.

Women with POI can experience a return of/or irregular periods, however, women who have completed menopause will not have menstrual periods again.

Studies show that approximately 1 in 4 women carriers experience FXPOI and overall the average age of menopause is reduced by about 5 years. It is thought that all women with premutation status have some decrease in ovarian function. However many women with the Fragile X premutation are able to conceive and family planning options are recommended.

Studies show that women who have POI of unknown cause have about a 1/50 chance of being a carrier of Fragile X, therefore the testing of women experiencing either POI or early menopause-like symptoms is recommended.

Symptoms of FXPOI cam mirror symptoms of menopause

Image credit: Women’s Health and the Fragile X Premutation, Whitney Espinel MMSc LGC, Stephanie Sherman PhD, Emory University, Georgia, US, 2015.

Is there a treatment for FXPOI?

There is no treatment available specific to FXPOI. Your doctor may help you manage the symptoms with methods similar to those used for menopause.

Image credit: Women’s Health and the Fragile X Premutation, Whitney Espinel MMSc LGC, Stephanie Sherman PhD, Emory University, Georgia, US, 2015.


To learn more:

Women’s Health and the Fragile X Premutation booklet 

Espinel and Sherman, Emory University, Georgia, US, 2015

 

When to Consider Fragile X: Early menopause or primary ovarian insufficiency shuold trigger genetic testing

Prof Martin Delatycki, Medical Observer, December 2016- January 2017

The Link between Fragile X and POI

By Prof Rod Baber. Video produced by Healthed for Fragile X Association of Australia (viewing time 3 minutes)

FXPOI Treatment Guidelines booklet (updated October 2018)

National Fragile X Foundation, US

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