Serum concentrations of follicle stimulating hormone may predict premature ovarian 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 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.
D000293:Adolescent; D000328:Adult; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood*; D005600:Fragile X Syndrome / Q000097:blood / Q000175:diagnosis*; D006580:Genetic Carrier Screening; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D011237:Predictive Value of Tests; D017697:Premenopause / Q000097:blood; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics