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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Description/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
| 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 |
| Item ID: | 175881 |
| Date Deposited: | 07 Mar 2011 14:42 |
| Last Modified: | 25 Apr 2013 23:45 |
| Contributors: | Murray, Anna (Author) Ennis, Sarah (Author) MacSwiney, Felicity (Author) Webb, James (Author) Morton, Newton E. (Author) |
| Date: | April 2000 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/175881 |
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