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

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