Article
Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers.
Journal of ovarian research - 17 May 2024
Agusti Ines, Alvarez-Mora Maria Isabel, Wijngaard Robin, Borras Aina, Barcos Tamara, Peralta Sara, Guimera Marta, Goday Anna, Manau Dolors, Rodriguez-Revenga Laia
Abstract excerpt
BACKGROUND: 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 premutation women will develop FXPOI. We previously demonstrated that high FMR4 levels can discriminate between FMR1 premutation carriers with and without...
Topics
- Adult
- Female
- Humans
- Young Adult
- Anti-Mullerian Hormone
- Biomarkers
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Heterozygote
- Mutation
- Ovarian Follicle
