Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2012 Nov;19(11):1226-31.
doi: 10.1177/1933719112446074. Epub 2012 May 10.

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

Lisa M Pastore  1 , Steven L Young, Valerie L Baker, Logan B Karns, Christopher D Williams, Lawrence M Silverman
Affiliations
Multicenter Study

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

Lisa M Pastore et al. Reprod Sci. 2012 Nov.

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.

PubMed Disclaimer

Conflict of interest statement

Declaration of Conflicting Interests: The author(s) declared no conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
Discrete distribution of CGG repeats in women with diminished ovarian reserve (DOR), 4 US clinics, 2005 to 2010.
See this image and copyright information in PMC

References

    1. McConkie-Rosell A, Abrams L, Finucane B, et al. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007;16(5):593–606 - PubMed
    1. Nelson LM, Bakalov VK. Mechanisms of follicular dysfunction in 46, XX spontaneous premature ovarian failure. Endocrinol Metab Clin North Am. 2003;32(3):613–637 - PubMed
    1. Speroff L, Fritz MA. Clinical Gynecologic Endocrinology and Infertility. 7 ed Philadelphia: Lippincott Williams & Wilkins; 2005
    1. Scott RT, Jr, , Hofmann GE. Prognostic assessment of ovarian reserve. Fertil Steril. 1995;63(1):1–11 - PubMed
    1. Levi AJ, Raynault MF, Bergh PA, Drews MR, Miller BT, Scott RT., Jr Reproductive outcome in patients with diminished ovarian reserve. Fertil Steril. 2001;76(4):666–669 - PubMed

Publication types

Substances