FXPOI Resources
Fragile X-associated primary ovarian insufficiency or FXPOI, is a condition in which the ovaries are not functioning at full capacity in an individual with the FMR1 premutation. All women can develop primary ovarian insufficiency (POI), but about 20% of women who carry a Fragile X premutation develop POI compared with only 1% in the general population. Not all women with a Fragile X premutation experience FXPOI. We continue to learn more about FXPOI and identifying risk factors to predict the onset of FXPOI is imperative for women’s health. These resources are intended for individuals who have or may receive a diagnosis of FXPOI.
Reproductive Health and Your Options
Includes tips for family planning, carrier testing & screening, contraception, growing your family with Fragile X Ssyndrome or Fragile X premutation, and costs
Some women with the Fragile X premutation are initially identified because they have fertility problems and are considering fertility treatment. There are various assisted reproductive options that individuals with the premutation may consider.
You may also be interested in Women’s Health and the Fragile X Premutation, an ebook created to empower premutation carriers of all ages and to serve as a guide for women, their families, and medical providers.
From Our Info Series
FXPOI is a spectrum condition and is diagnosed when indicators of ovarian function are reduced and show an impaired response, although women may still be having menstrual cycles.
Browse our other available Info Series flyers designed to be easily printable on your home or office printer.
Treatment Recommendations
About 20% of women who carry a Fragile X premutation over their reproductive lifespan develop POI, compared with only 1% in the general population. Thus, there is at least a 20-fold increased risk for POI among women with a premutation.
Please browse our other available Fragile X Treatment Recommendations written by esteemed professionals in the Fragile X field and published online for caregivers, parents, families, patients, and other professionals to read and share.
Women’s Health & the Fragile X Premutation
Download the 29-page ebook for information on the health concerns women with the Fragile X premutation need to be aware of, including genetics and inheritance, FXPOI, FXTAS, family planning, and more.
Webinars
I Have the Fragile X Premutation…Now What?— Webinar
Drs. Deborah Barbouth, Emily Allen, Reymundo Lozano, and David Hessl joined us for a one-hour Q & A discussing the Fragile X Premutation.
Premutation Concerns — Presentation
Dr. Randi Hagerman discusses all of the Fragile X-associated conditions and disorders and provides strategies for some of their characteristics.
One Fragile X Experience: Carrier & Mom Answers FAQs — Video
Ilana Garber, a Fragile X carrier and mother of a child with Fragile X syndrome, shares her experience with Fragile X and offers her perspective to people interested in testing for themselves or their child.
Health Concerns for Women Who Carry an FMR1 Premutation — Presentation
This presentation explores health conditions for women who carry an FMR1 premutation for Fragile X syndrome. Presented by Emily Allen, PhD.
Fragile X Premutation Discussion — Panel
Panelists Drs. David Hessl, Emily Allen, Deborah Hall and Randi Hagerman share their expertise on the Fragile X premutation at the 18th International Fragile X Conference.
Using Mindfulness and Acceptance Techniques to Reduce Stress — Webinar
Dr. Anne Wheeler provides an overview of stress vulnerability in women with (and without) a premutation, and how mindfulness-based techniques can be helpful for increasing mindfulness, reducing stress, and improving overall well-being.
More Resources
Fragile X-Associated Primary Ovarian Insufficiency
An introduction to FXPOI, a condition in which the ovaries are not functioning at full capacity in an FMR1 premutation carrier.
Health Concerns for Women Who Carry an FMR1 Premutation — Webinar
Emily Allen discusses some of the health concerns of women who are premutation carriers. She shares Fragile X-associated primary ovarian insufficiency research findings from her group at Emory University as well as from other researchers and covers some of the more recent findings of other medical conditions that are reported by women who carry a premutation, such as depression, anxiety, headaches, and autoimmune conditions.
The Diagnostic Experience of Women with Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)
Watch this presentation from one of our Summer Scholars, Bonnie McKinnon, whose study explored the diagnostic odyssey of women with Fragile X-associated primary ovarian insufficiency. Her team interviewed 24 women with FXPOI to better understand their diagnosis, healthcare experience, and self-advocacy, along with other factors that contribute to their experiences.
SART: Society for Assisted Reproductive Technology
ReproductiveFacts.org: From the American Society for Reproductive Medicine
Be a part of the solution.
Learn more about the INTERNATIONAL FRAGILE X PREMUTATION REGISTRY and join individuals with the premutation and their families to help advance — and encourage — deeper understanding and research into the premutation condition.
Be a part of the solution.
Learn more about the International Fragile X Premutation Registry and join individuals with the premutation and their families to help advance — and encourage — deeper understanding and research into the premutation condition.