Fragile X Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Fragile X Syndrome, including details on symptoms, treatment, heritability, diagnosis.

Reproductive Health of Adolescent Girls Who Carry the FMR1 Premutation: Expected Phenotype Based on Current Knowledge of Fragile X-Associated Primary Ovarian Insufficiency.

DE Caro JJ, Dominguez C, Sherman SL

Departments of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322.  ssherman@genetics.emory.edu.

The fragile X mental retardation 1 (FMR1) gene, located on the X chromosome, is characterized by a dynamic CGG repeat expansion in the 5' untranslated region. It has long been known that female carriers of the FMR1 premutation allele (55-199 CGG) are at risk for passing the FMR1 full mutation (>/=200 repeats) to their offspring, which results in a common form of mental retardation known as fragile X syndrome. The FMR1 premutation allele, however, also places female carriers at significantly increased risk for prematurely diminished ovarian function, which we refer to as fragile X-associated primary ovarian insufficiency (FXPOI). Although of particular concern for younger women, to date, studies of FXPOI have been restricted to women >/=18 years of age and have not specifically addressed ovarian reserve and menstrual cycle characteristics among adolescent carriers. We discuss the expected reproductive phenotype among FMR1 premutation carriers during adolescence, the associated health considerations based on our current understanding of FXPOI, and the directions for future studies.

Published 24 June 2008 in Ann N Y Acad Sci, 1135: 99-111.
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