Fragile X-associated primary ovarian insufficiency
=Fragile X-associated Primary Ovarian Insufficiency =
Fragile X-associated primary ovarian insufficiency (FXPOI) is a genetic condition affecting ovarian function in women who carry a premutation in the FMR1 gene. This condition is part of the spectrum of disorders associated with the Fragile X syndrome.
Overview[edit | edit source]
FXPOI is characterized by a reduction in ovarian function, which can lead to irregular menstrual cycles, early menopause, and infertility. It is estimated that approximately 20% of women who carry the FMR1 premutation will develop FXPOI.
Genetics[edit | edit source]
The FMR1 gene is located on the X chromosome and is responsible for producing the fragile X mental retardation protein (FMRP). In individuals with a premutation, the gene contains 55 to 200 CGG repeats, which is more than the normal range but fewer than in full mutation cases of Fragile X syndrome.
Premutation Carriers[edit | edit source]
Women who are premutation carriers have an increased risk of developing FXPOI. The premutation leads to elevated levels of FMR1 mRNA, which is thought to contribute to ovarian dysfunction.
Symptoms[edit | edit source]
The symptoms of FXPOI can vary but often include:
- Irregular or absent menstrual periods
- Symptoms of menopause such as hot flashes and night sweats
- Infertility or reduced fertility
- Elevated levels of follicle-stimulating hormone (FSH)
Diagnosis[edit | edit source]
Diagnosis of FXPOI typically involves:
- Genetic testing to identify the FMR1 premutation
- Hormonal tests to assess ovarian function, including FSH levels
- Evaluation of menstrual history and symptoms
Management[edit | edit source]
There is currently no cure for FXPOI, but management strategies focus on alleviating symptoms and addressing fertility concerns. These may include:
- Hormone replacement therapy (HRT) to manage menopausal symptoms
- Assisted reproductive technologies (ART) for those seeking to conceive
- Counseling and support for affected individuals and families
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the mechanisms by which the FMR1 premutation leads to FXPOI and to develop targeted therapies. Studies are also exploring the broader impact of the premutation on women's health.
See Also[edit | edit source]
External Links[edit | edit source]
- [National Fragile X Foundation](https://fragilex.org/)
- [Genetics Home Reference](https://ghr.nlm.nih.gov/)
NIH genetic and rare disease info[edit source]
Fragile X-associated primary ovarian insufficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
