Female factor
Karyotyping and FMR1 (fragile-X) premutation testing are well-established, guideline-recommended parts of the premature-ovarian-insufficiency and reduced-ovarian-reserve workup; ESHRE recommends both in confirmed POI. The FMR1 premutation is among the commonest identifiable genetic causes of POI, understood as a strong risk factor rather than a deterministic predictor.
Limitations: These tests identify risk factors, not certainties. The FMR1 premutation is incompletely penetrant: it raises the risk of ovarian insufficiency but does not predict whether or when it will occur.
References (3)
- Panay N et al (2024). Evidence-based guideline: premature ovarian insufficiency (ESHRE update). Climacteric. (opens in a new tab)PubMed (opens in a new tab)
- Webber L et al (2016). ESHRE Guideline: management of women with premature ovarian insufficiency. Hum Reprod. (opens in a new tab)PubMed (opens in a new tab)
- Tosh D et al (2014). Association between fragile X premutation and premature ovarian failure: case-control study and meta-analysis. Arch Gynecol Obstet. (opens in a new tab)PubMed (opens in a new tab)
