Premature Ovarian Failure - Fragile X Testing

Is Testing Right for Me? I Have My Test Results

Premature Ovarian Failure - Fragile X Testing

What Is Premature Ovarian Failure?

Premature ovarian failure (POF) means that the ovaries stop making normal levels of hormones and releasing eggs each month before a woman turns 40. This may cause menopause-like symptoms, absent periods, and infertility. However, women with POF may occasionally have periods or become pregnant after being diagnosed. Lab tests will show that a woman has high levels of a hormone called FSH ("follicle-stimulating hormone"). POF is also sometimes called primary ovarian insufficiency (POI).

In most cases of POF, the cause is never found. However, about 2% of women with POF have a specific change, called a premutation, in the gene that causes fragile X syndrome. For women with POF who also have a family history of POF, the chance is about 14%. Not all women with a premutation will have POF, but the chance is about twice as high as in women who don't have a premutation.

Women with a fragile X premutation are also at risk to have children with fragile X syndrome — a kind of inherited metal retardation. Read about Fragile X and the Genetics of Fragile X.

Testing for fragile X is recommended in women with POF to determine if there is an increased risk to have a child with fragile X syndrome, especially infertility treatment is planned. Women who carry a fragile X premutation may be less likely to conceive with assisted reproduction. Their ovaries don't respond as well to some medicines used to stimulate egg production.

Next: What Is Fragile X?

Why are you considering genetic testing for yourself or a family member?

My child has developmental delays or mental retardation without a known cause.

I have one or more relatives with mental retardation or other signs and symptoms of fragile X.

I have one or more relatives with a known fragile X mutation.

I have premature ovarian failure without a known cause.

None of these

Fragile X syndrome testing may be useful for finding a cause of your child's learning and/or behavior problems.

  • If testing finds a mutation, the diagnosis of fragile X syndrome is confirmed. Having a diagnosis can help you and others who care for your child learn about the condition and anticipate the problems your child may have. It can also help connect you to support and advocacy groups. Finding a mutation also provides information to you and other family members about the chance to have a child with fragile X, premature ovarian failure, and fragile X-associated tremor/ataxia syndrome.
  • If testing does not find a mutation, the chance that your child has fragile X is very small. Testing finds more than 99% of the gene changes that cause fragile X. Other testing, including other genetic tests, may be useful to look for other possible causes of your child's learning and behavior problems.

Fragile X genetic testing may be useful for your healthcare and for family planning.

  • If testing finds a mutation, it is likely that fragile X is running in your family. You may be at-risk for premature ovarian failure (POF) if female or fragile X-associated tremor/ataxia syndrome (FXTAS). Your children may be at-risk for those conditions or fragile X syndrome.
  • If testing does not find a mutation, you are not likely to be at-risk for fragile X-associated conditions or to have children with fragile X syndrome.

    However, a normal fragile X test result does not rule out another genetic cause for mental retardation that could put your children at-risk. It may be helpful for your relative(s) with mental retardation or other signs and symptoms to have an exam with a specialist in genetics. This evaluation may find a genetic cause for mental retardation that would offer more information for family members concerned about their reproductive risks.

Fragile X genetic testing may be useful to know whether you may be at-risk to have a child with fragile X syndrome. Testing may also provide results that show you could have premature ovarian failure (if female) or fragile X-associated tremor/ataxia syndrome at a later age.

If possible, the results of fragile X testing in your relative(s) should be provided to the lab that does your testing. Knowing their results can help the experts at the lab provide you with the most accurate information about your test results.

  • If testing finds a mutation, you have inherited the fragile X mutation that is running in your family. You may be at-risk for POF or FXTAS yourself and your children may be at-risk for those conditions or fragile X syndrome. This information may be useful to you for your own healthcare and for family planning decisions.
  • If testing does not find a mutation, you have not inherited the fragile X mutation that is running in your family. You are not at-risk for fragile X-associated conditions or to have children with fragile X syndrome.

Fragile X testing may be useful to find the cause of your premature ovarian failure (POF) and determine whether you are at risk to have a child with fragile X syndrome.

  • If testing finds a fragile X premutation, then this is likely the cause of your POF. Also, knowing you have a fragile X premutation means that your children are at risk for fragile X syndrome, POF, and fragile X-associated tremor/ataxia syndrome (FXTAS). Finding a premutation provides information to other family members about the chance for them and their children to have the conditions associated with fragile X gene mutations.
  • If testing does not find a fragile X premutation, then it is very unlikely that your POF was caused by changes in the fragile X gene. Most of the time a cause for POF can't be found. Your children are very unlikely to have fragile X syndrome or other fragile X-related conditions.

Fragile X genetic testing probably won't be useful for you if you don't have signs of fragile X or premature ovarian failure, and no one in your family does either. If you think you have a reason to consider fragile X testing that isn't discussed here, talk to your doctor or a genetic counselor.