Elevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserve.

Journal Article (Journal Article;Multicenter Study)

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.

Full Text

Duke Authors

Cited Authors

  • Pastore, LM; Young, SL; Baker, VL; Karns, LB; Williams, CD; Silverman, LM

Published Date

  • November 2012

Published In

Volume / Issue

  • 19 / 11

Start / End Page

  • 1226 - 1231

PubMed ID

  • 22581803

Pubmed Central ID

  • PMC4051402

Electronic International Standard Serial Number (EISSN)

  • 1933-7205

Digital Object Identifier (DOI)

  • 10.1177/1933719112446074


  • eng

Conference Location

  • United States