The role of genetic and autoimmune factors in premature ovarian failure

Purpose To identify the role of both genetic (number of CGG repeats in the FMR1 gene) and autoimmune factors (anti-ovarian antibodies) in premature ovarian failure (POF). Methods In cross-sectional study, 78 women with POF were divided into 3 groups by the number of CGG repeats (less than 28, 28–36, more than 36) in any of the FMR1 gene alleles. We performed the detection of skewed X-chromosome inactivation, CGG repeats in the FMR1 gene, anti-ovarian antibodies (AOA) and sex hormones tests. Results Compared to a higher or lower number of CGG repeats the 28–36 triple CGG counts are strongly associated with the AOA detection (RR = 19.23, 95 % CI = 2.63–100.0). The women with autoimmune-driven POF have significantly higher anti-Mullerian hormone levels in comparison to women with non-autoimmune-driven POF. Conclusion The presence of AOA above 10 IU/mL is associated with the normal number of CGG repeats in regard to ovarian reserve and a better preservation of follicular primordial pool in the women with POF.