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

Lisa M. Pastore, Steven L. Young, Valerie L. Baker, Logan B. Karns, Christopher D. Williams, Lawrence M. Silverman

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1226-1231
Number of pages6
JournalReproductive Sciences
Issue number11
StatePublished - Nov 2012
Externally publishedYes


  • FMR1
  • diminished ovarian reserve
  • epidemiology
  • female infertility
  • trinucleotide repeats

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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