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This page was developed in conjunction with NIN/NICHD
Primary Ovarian Insufficiency (POI) and Fragile X
(formerly referred to as "POF")
What is POI?
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 flashes 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 now and then to release viable eggs. Women who have completed menopause cannot get pregnant because their ovaries
no longer release eggs.
- Women with POI can experience a return of menstrual periods. Women who have completed menopause will not have menstrual periods again.
- Some women with POI will become pregnant without treatment, even many years after their initial diagnosis.
For these reasons, health care providers no longer use the term "premature menopause" to describe POI. In fact, health care providers are beginning to use the term ovarian insufficiency
to describe the condition because it is a more accurate description of what happens. This document refers to "POI" and "ovarian insufficiency" interchangeably.
What if I have a FMR1 premutation?
- You are at higher risk for POI than women who don't have the premutation. Studies show that approximately 21 percent of women with an FMR1 premutation experience POI.
- You are at risk for a milder form of ovarian insufficiency that may be associated with infertility, but that does not have all the symptoms of POI. Women with a premutation who are having regular
menstrual periods may still experience infertility. Some women may have a decrease in ovarian function that is detectable by blood tests that measure specific hormones.
- You are at increased risk for experiencing early menopause. Studies show that 23 percent of women with the FMR1 premutation experience early menopause Normal menopause, the permanent
cessation of menstrual periods, occurs on average when a woman is between 45-55 years old. Early menopause is defined occurring between the ages of 40 and 45.
Keep in mind that, women with the premutation cannot assume that they have reduced fertility or that they are infertile; therefore, those who don't want to become pregnant should take steps to prevent
pregnancy.
Because of the decrease in hormone levels that accompany the condition, women with POI are at higher risk for decreased bone mineral density at an earlier age. Currently, there is no evidence that women
who have POI due to the FMR1 premutation have an increased risk for any other medical conditions.
What does it mean to my health if I have the FMR1 premutation?
- You may have POI or milder forms of ovarian insufficiency.
- You are at risk of passing the FMR1 premutation to your children, meaning your children are at risk of inheriting Fragile X syndrome, including mild to severe mental retardation.
- Your risk for developing Fragile X Tremor/Ataxia Syndrome (FXTAS), http://www.fragilex.org/html/fxtas.htm, a neurological disorder that causes
tremors, balance problems, difficulty walking (ataxia), and deteriorating mental function (dementia) after 50 years of age. Currently, FXTAS is more common in men with the premutation. To date, the risk in women with the
premutation appears low.
- Your relatives may also have the premutation, which means they, too, face the risks listed here.
What if I don't know whether or not I have the premutation?
- If you haven't been tested for the premutation, or if you don't know whether POI or Fragile X mutations run in your family, you may want to get tested for the fragile X gene mutation. Please request
the FMR1 DNA test.
- For more information about testing, visit http://www.fragilex.org/html/testing.htm
- Your health care provider may also have information about testing for the fragile X premutation.
- If you are a premutation carrier you may also want to find out if you have POI by talking to your health care provider. Once your provider knows your genetic results, he or she may order a
specific blood test to measure your FSH levels.
What if I have a FMR1 premutation, and wish to participate in research studies about POI and Fragile X?
- The National Institute of Child Health and Human Development (NICHD) http://www.nichd.nih.gov/ is working with the NFXF to encourage women with the premutation to take part in a study about POI. The NICHD, part the National Institutes of Health within the U.S. Department of Health and Human Services, has been studying POI, including its causes and its associated conditions, for many years.
- By taking part in this clinical study, women have a unique opportunity to help scientists understand POI in those with the premutation. Some of the possible questions this research seeks to answer
include: How many women with the premutation have POI? Does the course of POI in women with the premutation differ from the course of the condition in those with normal FMR1 genes? Are the symptoms of women
with the premutation and POI different from those of women who just have POI?
- For more information about the study, visit http://pof.nichd.nih.gov/,or call
1-877-206-0911.
Where can I find more information about POI?
The following Web sites may offer helpful information about POI:
Where can I find more information about Fragile X?
References:
- Sherman SL. [2000]. Premature ovarian failure in the Fragile X syndrome. Am J Med Genet, 3:189-194.
- Sullivan AK, et al. [2005]. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod, Feb;20[2]:402-412.
- Welt CK, Smith PC, & Taylor AE. [2004]. Evidence of early ovarian aging in Fragile X premutation carriers. J Clin Endocrinol Metab, 9: 4569-4574.
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