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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), pp. 247-252.

Record type: Article


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

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Published date: April 2000
Keywords: fragile x, premutation, premature ovarian failure


Local EPrints ID: 175881
ISSN: 1018-4813
PURE UUID: 83e20d56-8bd2-48d3-a4aa-5671853198cb

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Date deposited: 07 Mar 2011 14:42
Last modified: 18 Jul 2017 12:09

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Author: Anna Murray
Author: Sarah Ennis
Author: Felicity MacSwiney
Author: James Webb
Author: Newton E. Morton

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