Reproductive and menstrual history of females with fragile X expansions

Murray, Anna, Ennis, Sarah, MacSwiney, Felicity, Webb, James and Morton, Newton E. (2000) Reproductive and menstrual history of females with fragile X expansions. European Journal of Human Genetics, 8, (4), 247-252.


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FRAXA premutations have been associated with premature ovarian failure (POF) or menopause before the age of 40. We have studied women in families ascertained because of a mentally retarded full mutation relative and determined their age of menopause, serum hormone levels in premenopausal individuals and the outcome of any pregnancies. Survival analysis was used as a measure of menopause and demonstrated a significant decrease in age of menopause in premutation carriers compared with their full mutation carrier and normal relatives. Serum FSH was also raised in premutation carriers, although oestradiol, inhibin A and inhibin B were not significantly different. However, we did not find an excess of dizygous twins or pregnancy loss/trisomies, both of which are associated with aging ovaries. Thus premutation carriers as a group have an earlier menopause and raised serum FSH but do not appear to manifest other features of an aging ovary

Item Type: Article
ISSNs: 1018-4813 (print)
1476-5438 (electronic)
Related URLs:
Keywords: fragile x, premutation, premature ovarian failure
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RG Gynecology and obstetrics
Divisions: University Structure - Pre August 2011 > School of Medicine > Human Genetics
ePrint ID: 175881
Date Deposited: 07 Mar 2011 14:42
Last Modified: 27 Mar 2014 19:22

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