Reproductive and menstrual history of females with fragile X expansions

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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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Murray, A., Ennis, S., MacSwiney, F., Webb, J., & Morton, N. E. (2000). Reproductive and menstrual history of females with fragile X expansions. European Journal of Human Genetics, 8(4), 247–252. https://doi.org/10.1038/sj.ejhg.5200451

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