Primary Ovarian Insufficiency and Fragile X
Although the findings are not new, the connection may not often be made between Fragile X and Primary Ovarian Insufficiency because Fragile X is very often silent in females. 
In 2005, a study revealed that premutation carriers (female carriers) often had symptoms such as premature ovarian failure and tremors/ataxia. They found that premature ovarian failure occurred in up to 20 percent of woman who were carriers of the FMR1 gene (compared to approximately one percent of women in the general population).
The DNA MedEd Cafe is conducting a Special Web Conference February 28th to discuss Premature Ovarian Failure/Primary Ovarian Insufficiency and Molecular Diagnosis.
What is Primary Ovarian Insufficiency? POI was formerly known as Premature Ovarian Failure and is NOT menopause. Women with POI may actually develop symptoms similar to menopause but they can still get pregnant because their ovaries may occasionally work. However, women with POI are at higher risk for being carriers of Fragile X. Some women may still even have regular cycles but may have POI in a milder form.
Women who suspect they may have POI and be carriers of Fragile X should have the FMR1 DNA test. The risk to children includes mild to severe mental retardation and you (the woman) risks developing Fragile X Tremor/Ataxia Syndrome.
Girls with full mutation Fragile X have fewer physical signs of Fragile X than do males (who typically also have more mental retardation and serious learning disabilities). However, some females (about one third) also have learning disabilities like attention difficulties, emotional problems, poor social skills, and problems with math.
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