Abstract
Introduction
Fragile X premutations are associated with primary ovarian insufficiency when the patient presents with amenorrhea, but the fragile X mental retardation 1 (FMR1) CGG repeat count among cycling women with low ovarian reserve (diminished ovarian reserve [DOR]) is not yet established.
Patients and Methods
Sixty-two infertile DOR patients were recruited from 4 US private and academic fertility centers.
Results
The prevalence of 35-44 FMR1 CGG repeats was 14.5%. Compared with the general female population estimate from the literature, infertile women with DOR were more likely to have 35-44 FMR1 CGG repeats (14.5% and 3.9%, respectively, P = .0003). Similar findings were noted by 5-repeat bandwidth: 35-39 CGG repeats (9.7% DOR vs 3.2% comparison, P = .012) or 40-44 CGG repeats (4.8% DOR vs 0.7% comparison, P = .024).
Conclusions
These data suggest that CGG repeats of 35–44 may be markedly overrepresented in women with DOR, whereas the current FMR1 reference range indicates that there is no clinical phenotype with <45 CGG repeats.
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Pastore, L.M., Young, S.L., Baker, V.L. et al. Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve. Reprod. Sci. 19, 1226–1231 (2012). https://doi.org/10.1177/1933719112446074
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DOI: https://doi.org/10.1177/1933719112446074