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Hum. Reprod. Advance Access originally published online on June 22, 2007
Human Reproduction 2007 22(8):2142-2152; doi:10.1093/humrep/dem148
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Examination of reproductive aging milestones among women who carry the FMR1 premutation

E.G. Allen1,4, A.K. Sullivan1, M. Marcus2, C. Small2, C. Dominguez3, M.P. Epstein1, K. Charen1, W. He1, K.C. Taylor2 and S.L. Sherman1

1 Department of Human Genetics, Emory University 2 Department of Epidemiology, Rollins School of Public Health, Emory University 3 Department of Gynecology and Obstetrics, School of Medicine, Emory University

4 Correspondence address. 615 Michael Street, Suite 301, Atlanta, GA 30322, USA. Tel: +1-404-778-8473; Fax: +1-404-727-3949; E-mail: egraves{at}genetics.emory.edu

BACKGROUND: The fragile X premutation is characterized by a large CGG repeat track (55–199 repeats) in the 5' UTR of the FMR1 gene. This X-linked mutation leads to an increased risk for premature ovarian failure; interestingly, the association of repeat size with risk is non-linear. We hypothesize that the premutation-associated ovarian insufficiency is due to a diminished oocyte pool and examined reproductive aging milestones by repeat size group to determine if the same non-linear association is observed.

METHODS: We analyzed cross-sectional reproductive history questionnaire data from 948 women with a wide range of repeat sizes.

RESULTS: We have confirmed the non-linear relationship among premutation carriers for ovarian insufficiency. The mid-range repeat size group (80–100 repeats), not the highest group, had an increased risk for: altered cycle traits (shortened cycle length, irregular cycles and skipped cycles), subfertility and dizygotic twinning. Smoking, a modifiable risk, decreased the reproductive lifespan of women with the premutation by about 1 year, similar to its effect on non-carriers. As expected, premutation carriers were found to be at an increased risk for osteoporosis.

CONCLUSIONS: Possible molecular mechanisms to explain the non-linear repeat size risk for ovarian insufficiency are discussed.

Key words: FMRP/infertility/menopause/RNA toxic effect/trinucleotide

Submitted on December 18, 2006; resubmitted on May 1, 2007; accepted on May 8, 2007.


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[Abstract] [Full Text] [PDF]


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