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Introduction: The correlation between FMR1 and ovarian function is a relatively new field of research. It has been stated that premutation carriers present with higher rates of premature ovarian failure, compared to the general population. In the present study, we attempted to correlate the distribution of FMR1 CGG level and genotypes with the outcome of in vitro fertilization protocol between good and poor responders. Materials and Methods: Sixty-two infertile women were enrolled in the study and subdivided into two groups; one group of 36 good responders and one of 26 poor responders, according to the Bologna criteria. Good responders presented with ≥ 8 oocytes retrieved, basal FSH levels ≤ 10 mIU/ml and peak estradiol (E2) levels of ≥ 1500 pg/ml. Patients in both groups presented with tubal, male and unexplained infertility. Results: The most prevalent genotype in both good and poor responders was the normal type; 46.2% and 52.8%, respectively. The distribution of genotypes between good and poor responders did not statistically differ (p-value 0.256). Regarding the FMR1 genetic background, infertile women carrying a normal genotype had statistically significant higher mean oocyte maturation rates (p=0.026). In the whole study population women not carrying a Low Allele in their Genotype had less mean number of days of stimulation, compared to those carrying a low allele (p-value=0.033). Conclusions: The relative small size of the study population allows for only preliminary results. The random X-inactivation could act as a possible modifier of the impact of FMR1 genotypes in the ovary.

Evaluation of in vitro fertilization outcomes using the FMR1 CGG repeat level and genotypes as a potential marker