# Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers

## TL;DR

This study finds that higher FMR4 expression is linked to lower ovarian reserve markers in women with the FMR1 premutation, suggesting a role in predicting FXPOI.

## Contribution

The study identifies a novel correlation between FMR4 expression levels and ovarian reserve markers in FMR1 premutation carriers.

## Key findings

- FMR4 levels negatively correlate with AMH (r = 0.45) and AFC (r = 0.64) in FMR1 premutation carriers.
- Higher FMR4 transcript levels are significantly associated with low AFC and AMH levels.
- The findings support FMR4 as a potential biomarker for FXPOI risk in FMR1 premutation carriers.

## Abstract

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 FXPOI. In the present study the relationship between the expression levels of FMR4 and the ovarian reserve markers was assessed in female FMR1 premutation carriers under age of 35 years.

We examined the association between FMR4 transcript levels and the measures of total antral follicle count (AFC) and serum anti-müllerian hormone (AMH) levels as markers of ovarian follicle reserve.

Results revealed a negative association between FMR4 levels and AMH (r = 0.45) and AFC (r = 0.64). Statistically significant higher FMR4 transcript levels were found among those FMR1 premutation women with both, low AFCs and AMH levels.

These findings reinforce previous studies supporting the association between high levels of FMR4 and the risk of developing FXPOI in FMR1 premutation carriers.

The online version contains supplementary material available at 10.1186/s13048-024-01425-0.