Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review [PDF]
Frontiers in Genetics, 2018 Abnormalities in the X-linked FMR1 gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages.
Lawrence M Nelson +2 more
exaly +5 more sources
FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation [PDF]
Frontiers in Genetics, 2018 Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40.
Emily G Allen +2 more
exaly +5 more sources
Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study [PDF]
Frontiers in Genetics, 2014 Fragile X-associated primary ovarian insufficiency (FXPOI) is due to an X-linked mutation that results from the expansion of a CGG repeat sequence located in the 5' untranslated region of the FMR1 gene (premutation, PM).
Emily G Allen +2 more
exaly +5 more sources
Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) [PDF]
Journal of Clinical Medicine, 2022 Female FMR1 (Fragile X mental retardation 1) premutation carriers are at risk for developing fragile X-associated primary ovarian insufficiency (FXPOI), a condition characterized by amenorrhea before age 40 years. Not all women with a FMR1 premutation suffer from primary ovarian insufficiency and nowadays there are no molecular or other biomarkers that
Maria Isabel Alvarez-Mora +2 more
exaly +4 more sources
Women’s healthcare providers’ knowledge and practices surrounding fragile-X associated primary ovarian insufficiency (FXPOI) [PDF]
Journal of Assisted Reproduction and GeneticsThis study investigates the knowledge gaps about fragile X-associated primary ovarian insufficiency (FXPOI) among women's healthcare providers. Previous research highlighted a lack of awareness regarding FXPOI as a cause of primary ovarian insufficiency (POI) and its diagnosis.
Alexandra L Singleton +2 more
exaly +4 more sources
Refining the risk for fragile X–associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size [PDF]
Genetics in Medicine, 2021 Approximately 20-30% of women with an FMR1 premutation experience fragile X-associated primary ovarian insufficiency (FXPOI); however, current risk estimates based on repeat size only identify women with the midrange of repeats to be at the highest risk.To better understand the risk by repeat size, we collected self-reported reproductive histories on 1,
Emily G Allen +2 more
exaly +3 more sources
Clinical implications of somatic allele expansion in female FMR1 premutation carriers [PDF]
Scientific Reports, 2023 Carriers of a premutation allele (PM) in the FMR1 gene are at risk of developing a number of Fragile X premutation asssociated disorders (FXPAC), including Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), Fragile X-associated Primary Ovarian ...
Ramkumar Aishworiya +7 more
doaj +2 more sources
The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI). [PDF]
J Assist Reprod Genet, 2023 The fragile X premutation occurs when there are 55-200 CGG repeats in the 5' UTR of the FMR1 gene. An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated primary ovarian insufficiency (FXPOI). Diagnostic experiences of FXPOI have not previously been included in the literature, limiting insight
Poteet B +6 more
europepmc +3 more sources
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) [PDF]
Journal of Neurodevelopmental Disorders, 2014 Fragile X-associated primary ovarian insufficiency (FXPOI) is among the family of disorders caused by the expansion of a CGG repeat sequence in the 5' untranslated region of the X-linked gene FMR1. About 20% of women who carry the premutation allele (55 to 200 unmethylated CGG repeats) develop hypergonadotropic hypogonadism and cease menstruating ...
Stephanie L Sherman +2 more
exaly +3 more sources
Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers [PDF]
Journal of Ovarian ResearchBackground Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1
Ines Agusti +9 more
doaj +2 more sources