Valerie Baker, MD

Publication Details

  • Elevated Prevalence of 35-44 FMR1 Trinucleotide Repeats in Women With Diminished Ovarian Reserve REPRODUCTIVE SCIENCES Pastore, L. M., Young, S. L., Baker, V. L., Karns, L. B., Williams, C. D., Silverman, L. M. 2012; 19 (11): 1226-1231


    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.Sixty-two infertile DOR patients were recruited from 4 US private and academic fertility centers.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).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.

    View details for DOI 10.1177/1933719112446074

    View details for Web of Science ID 000309713300011

    View details for PubMedID 22581803

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