Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)

Fragile X-associated primary ovarian insufficiency, or FXPOI, is defined as going through menopause before the age of 40. The average age at menopause is 51 years old. Our study's aim is to investigate why some women who carry the premutation have early menopause while others do not. About 1% of women in the general population experience POI. In comparison, about 20% of women who are carriers of fragile X syndrome experience POI. You do not have to be a carrier of fragile X syndrome to participate in this part of our study.


In order to participate, you will be asked to sign a consent form, provide a cheek brush sample, and fill out our reproductive questionnaire. A cheek brush is a gentle, sterile brush which you rub on the inside of the cheeks in your mouth. You may collect the sample yourself and mail it back to us. A portion of participants will be asked to be in the follow-up study of learning, behavior, and/or movement. By donating a cheek brush you are not obligated to participate in the follow-up study. Some people will be asked to donate a blood sample so that we may learn more about this gene and associated factors.


The collection of the cheek brush sample and filling out the reproductive questionnaire can take place at your home. We will mail you a collection kit with a postage-paid return envelope.


We are funded by the National Institutes of Health (NIH). Before receiving funding from the NIH, a research proposal must be evaluated by experts in the scientific community. Of the 24,000 research proposals submitted nationally, only about 20% receive funding. Projects funded by the NIH must follow strict guidelines regarding participant confidentiality and informed consent.

Will I be informed of my genetic test result from this study?

If you want to know your genetic result, we will tell you. Some people we test may have a form of the gene that puts them at risk for having a child with fragile X syndrome. That form is called a premutation. Women with the premutation form of the gene may also be at risk for early menopause. Men with the premutation form of the gene may be at risk for a movement disorder (tremor/ataxia syndrome). These findings may cause emotional discomfort. We can reduce possible discomfort by offering resources and counseling. If you so request, we will NOT inform you of your test result. If you chose to be informed of your results, it can take several months for your results to be finalized.


We cannot promise that our study will be of direct benefit to you, but by taking part, you will help us understand how the FMR1 gene affects learning. In addition, if you participate in the study on learning and behavior we will compensate you for your time and effort.

What is known about carriers of fragile X syndrome and POI?

Click here to read scientific articles related to Primary Ovarian Insufficiency.

If you would like to participate in our research or if you would like additional information, please contact Krista Charen at (404) 778-8479 or