Fragile X-Associated Primary Ovarian Insufficiency

Panelists, Dr. Emily Allen, Dr. Heather Hipp, and Cecilia Bouska, shared their expertise on a range of important topics on FXPOI, including diagnostic criteria, how to communicate concerns with your healthcare provider, and treatment options tailored to individual needs.

We were joined by the authors of the recently updated treatment recommendation on Fragile X-Associated Primary Ovarian Insufficiency (FXPOI), one of three known Fragile X-associated conditions caused by changes in the FMR1 gene. FXPOI is a condition in which the ovaries are not functioning at full capacity in an individual with the FMR1 premutation. It can cause infertility, early menopause, and other ovarian issues. FXPOI occurs in about 20% of women with the FMR1 premutation.

The panelists, Dr. Emily Allen, Dr. Heather Hipp, and Cecilia Bouska, shared their expertise on various important topics, including diagnostic criteria, communicating concerns with your healthcare provider, and treatment options tailored to individual needs. We are grateful for their insights and commitment to supporting and educating women who FXPOI may impact.

The panelists shared information and resources while discussing the following topics:

• Diagnosis of FXPOI requires a female to have been identified through genetic testing or carrier screening to have the Fragile X premutation (55-200 CGG repeats). Diagnostic criteria also include at least four months of absent menstrual periods before age 40, along with a single serum follicle-stimulating hormone (FSH) level in the menopause range >25 IU/L (international units per liter).
• Discussing your risk for developing FXPOI with your primary or women’s health provider to support early recognition of symptoms and effective management. Dr. Hipp discussed considering a consultation with a reproductive endocrinologist who may have specialized expertise in POI.
  • Contact a Fragile X clinic to inquire about a referral or recommendation to a healthcare provider knowledgeable about FXPOI.
• Treatment and therapeutic intervention strategies are individualized based on a person’s specific goals and concerns. The discussion included fertility preservation, family planning options, and hormone replacement therapy (HRT) options to minimize the medical and emotional consequences associated with ovarian insufficiency.
• Family planning options are available. In addition to your OB/GYN or reproductive endocrinologist, it is important to consult with a genetic counselor, who can discuss the transmission risks. Also see Reproductive Health and Fragile X.

The panelists provided an informative and compassionate discussion, emphasizing recognizing the risks of developing FXPOI, exploring personalized treatment options, and seeking supportive care. We are grateful for their expertise in updating the FXPOI Treatment Recommendation and their empowering insights, which help females with the Fragile X premutation advocate for their health with greater confidence and clarity.