Reproductive and menstrual history of females with fragile X expansions
Reproductive and menstrual history of females with fragile X expansions
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
fragile x, premutation, premature ovarian failure
247-252
Murray, Anna
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Ennis, Sarah
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MacSwiney, Felicity
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Webb, James
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Morton, Newton E.
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April 2000
Murray, Anna
2c3bf35c-26dd-427d-9673-ccbfa7f17e9a
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
MacSwiney, Felicity
cfb4eb9f-cf16-46e2-93ee-18b26358903e
Webb, James
13fe2d4b-7be1-46a5-8b93-d1d76e88794c
Morton, Newton E.
c668e2be-074a-4a0a-a2ca-e8f51830ebb7
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), .
Abstract
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
Identifiers
Local EPrints ID: 175881
URI: http://eprints.soton.ac.uk/id/eprint/175881
ISSN: 1018-4813
PURE UUID: 83e20d56-8bd2-48d3-a4aa-5671853198cb
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Date deposited: 07 Mar 2011 14:42
Last modified: 08 Jan 2022 02:50
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Contributors
Author:
Anna Murray
Author:
Felicity MacSwiney
Author:
James Webb
Author:
Newton E. Morton
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