Semin Reprod Med 2001; 19(2): 159-166
DOI: 10.1055/s-2001-15401
Copyright © 2001 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

The Female and the Fragile X Reviewed

Aileen Kenneson, Stephen T. Warren
  • Howard Hughes Medical Institute and Departments of Biochemistry, Genetics, and Pediatrics, Emory University School of Medicine, Atlanta, Georgia
Further Information

Publication History

Publication Date:
31 December 2001 (online)

ABSTRACT

Nearly 15 years ago, female carriers of the fragile X mental retardation syndrome were noted to have an increased incidence of twin pregnancies. Since then, much evidence has accumulated supporting the notion of ovarian dysfunction in fragile X carriers, in the forms of increased dizygotic twinning and premature ovarian failure. However, despite a decade and a half of research regarding this association, the underlying mechanism remains a mystery. This article reviews the population-based studies that have examined this association and discusses possible reasons for the variations in results. In addition, results from more recent studies on endocrine function in fragile X carriers are discussed. These data, when considered in conjunction with our emerging understanding of the molecular biology of the fragile X gene (FMR1) and its protein product (FMRP), are beginning to elucidate possible mechanisms for the association between fragile X syndrome and ovarian dysfunction.

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