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Human Reproduction, Vol. 14, No. 5, 1217-1218, May 1999
© 1999 European Society of Human Reproduction and Embryology

Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women

Anna Murray1,3, James Webb1, Felicity MacSwiney1, Emma L. Shipley1, Newton E. Morton1 and Gerard S. Conway2

1 Wessex Regional Genetics, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ and 2 Division of Endocrinology, Cobbold Laboratories, Middlesex Hospital, Mortimer Street, London, W1N 8AA, UK

It is now recognized that female carriers of fragile X premutations are at increased risk of premature ovarian failure. We have studied 51 premenopausal women from fragile X families, to determine whether premutation carriers have variations in the hormonal markers of menopause, compared to full mutations and controls. We found a significant increase in serum follicle stimulating hormone in premutation carriers, suggesting that as a group they will enter menopause before full mutation carriers and unaffected controls. These results have important implications for fertility in these women.

Key words: fragile X/FSH/premature ovarian failure/premutation

3 To whom correspondence should be addressed


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