Facts about Primary Ovarian Insufficiency (POI)

(NOTE: Beginning in 2008, at the request of the National Institutes of Health, the NFXF is changing all references to "premature ovarian failure" or "POF" to "primary ovarian insufficiency" or "POI". Since there is more than one cause of POI, the NFXF will also more specifically refer to "fragile X-associated primary ovarian insufficiency" or "FXPOI".)

FXPOI is defined as menopause occurring prior to the age of 40. Early menopause is defined as menopause occurring prior to the age of 45. Carriers of the FMR1 premutation (55-200 CGG repeats) are at risk for FXPOI, early menopause and ovarian dysfunction (decreased fertility) in general. Carriers of the full mutation do not appear to be at risk for these conditions.

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Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
Information for Families and Providers

Women with POI and no known family history of Fragile X.

Studies show that women who have FXPOI of unknown cause have a 1/50 chance of being a premutation carrier of the FMR1 gene, the gene that causes fragile X syndrome. Women with FXPOI and a family history of female relatives with FXPOI have a 1/15 chance of carrying this premutation. Given that carriers of the FMR1 premutation have a significant risk to have a child with fragile X syndrome, testing for the FMR1 premutation in women with FXPOI is recommended and in the case of a positive result, has many implications.

Women with a known FMR1 premutation

Studies show that approximately 20-28% of women with an FMR1 premutation experience FXPOI and another 23% experience early menopause. It is thought that all women with premutations have some decrease in ovarian function. However, many women with premutations are able to conceive and family planning is recommended rather than assuming decreased fertility.

The decrease in fertility is related to increased levels of some hormones, particularly FSH and decrease length of a phase of the menstrual cycle called the follicular phase. It is recommended that all women with premutations have FSH levels evaluated and monitored throughout their childbearing years.

Menstrual Cycles, the FMR1 Premutation, and Primary Ovarian Insufficiency

Click here for additional information on FXPOI developed in conjunction with NIH/NICHD
FXPOI: Primary Ovarian Insufficiency Message Board

Participate in a research study on women with primary ovarian insufficiency or premature ovarian failure
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To connect with other women with ovarian insufficiency of various causes contact the International POF Association at :
http://www.pofsupport.org/

Plan Offers Guidance For Evaluating Menopause-Like Condition in Girls and Young Women
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