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FMR1 Repeats and Ovarian Reserve: CGG Repeat Number does not Influence Antral Follicle Count

Trimble LB Spitzer, Erica B. Johnstone, Heather G. Huddleston, Marcelle I. Cedars, Gina Davis and Victor Y. Fujimoto

Background: Premature ovarian failure has been reported in women carrying FMR1 premutations. This study explored the association between number of FMR1 CGG repeats and Antral Follicle Count (AFC) in infertile women.

Methods: Retrospective cross-sectional study; 350 infertile women underwent FMR1 genotyping and ultrasound for AFC at an academic reproductive medical center. Women with premature ovarian failure were excluded. FMR1 repeats were classified as

Result(s): Only 1 woman carried a premutation, with 57 CGG repeats. Seven women carried intermediate alleles (<2%). FMR1 repeat number was not a significant predictor of AFC in an age-adjusted linear regression when the highest number allele or both allele members were included. Age-adjusted AFC did not differ between FMR1 groups by any of the classification systems used.

Conclusion(s): FMR1 intermediate alleles and premutations are rare in infertile women in the San Francisco Bay Area, with prevalence comparable to the general population. FMR repeat number does not correlate with AFC in this ethnically diverse population.