April 19, 2026 · Human reproduction (Oxford, England) · DOI: 10.1093/humrep/deag061

Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women

Listen to this summary

The authors aimed to determine whether FMR1 CGG repeat length serves as a clinically meaningful predictor for premature ovarian insufficiency (POI) in women. They found that while the risk of POI increases with repeat lengths starting at 36, the predictive power of FMR1 repeat length is limited compared to a polygenic score for menopause timing. These findings suggest that clinical FMR1 premutation testing may have limited diagnostic value for POI and highlight the need to explore alternative mechanisms and potential genetic modifiers.

Emily J Morbey, Felix R Day, Daniel J Wright, Jack R A Murzynowski, Sinead M McGlacken-Byrne, Anna Murray, Ken K Ong, John R B Perry

This is one of 33,000+ journals available on OSLR. Try it free for 14 days.

Free 14-day trial. 33,000+ journals. Cancel anytime.

14-day free trial. No commitment.

"Oslr has become part of my weekly routine on my day off. The clinical relevance of the summaries is outstanding — I'd rate it 9/10. Being able to consume research hands-free is a huge advantage for busy physicians."

Dr. Jennifer Thompson

Dr. Jennifer Thompson

Portland, OR

Stay current without falling behind

33,000+ journals. 3-minute audio summaries. Free for 14 days.

Download on the App StoreGet it on Google Play