ArticleMenopause (New York, N.Y.)2016
Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI).
Article in Menopause (New York, N.Y.), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 57 citations in OpenAlex.
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool.Journal of assisted reproduction and genetics · 2026Article
- Women's healthcare providers' knowledge and practices surrounding fragile-X associated primary ovarian insufficiency (FXPOI).Journal of assisted reproduction and genetics · 2025Article
- Healthcare Experiences of African American Women with the Fragile X Premutation.Journal of racial and ethnic health disparities · 2024Article
- Population-based FMR1 carrier screening among reproductive women.Journal of assisted reproduction and genetics · 2024Article
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- Female fertility preservation for family planning: a position statement of the Italian Society of Fertility and Sterility and Reproductive Medicine (SIFES-MR).Journal of assisted reproduction and genetics · 2024Article
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Genes · 2024Review
- Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.Journal of ovarian research · 2024Article
- Review
- Assessment and quantification of ovarian reserve on the basis of machine learning models.Frontiers in endocrinology · 2023Article
- The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).Journal of assisted reproduction and genetics · 2023Article
- Ovarian Reserve Disorders, Can We Prevent Them? A Review.International journal of molecular sciences · 2022Review
- Endocrine disorders and fertility and pregnancy: An update.Frontiers in endocrinology · 2022Review
- Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.Fertility and sterility · 2021Article
- Men with an FMR1 premutation and their health education needs.Journal of genetic counseling · 2021Article
- Mechanisms of ovarian aging.Reproduction (Cambridge, England) · 2021Review
- Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.Molecular genetics & genomic medicine · 2021Article
- Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).Journal of assisted reproduction and genetics · 2021Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveApproximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI). We explored diagnostic patterns, frequency of appropriate hormone replacement, obstetric outcomes, fertility treatment, reproductive decisions, and counseling of women with fragile X-associated POI (FXPOI).
methodsSemistructured interviews with 79 women with FXPOI were conducted by a single interviewer. FMR1 cytosine-guanine-guanine repeat size was determined from a blood, saliva, or buccal sample.
resultsThe median age of POI onset for women in our study was 33 years. Seventy-two percent of the women had an FMR1 cytosine-guanine-guanine repeat length of 80 to 100. Mean length of time from symptom onset to POI diagnosis was 1.12 years, longer in women with a younger age of POI onset and shorter in women who knew they were carriers. After diagnosis, 52% of women never took hormone therapy, started it years after POI diagnosis, or stopped it before 45 years of age. Forty-nine percent of the women had infertility, but 75% had had at least one genetically related child. Obstetric outcomes were similar to the general population. Forty-six percent of women had a diagnosis of low bone mineral density or osteoporosis, and an additional 19% had never had a bone density assessment.
conclusionsWomen with FXPOI are at significant risk for delayed POI diagnosis and undertreatment with hormone therapy. Although approximately 50% of women had infertility, most were able to conceive at least one child and had no elevated risk of adverse obstetric outcomes.
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