Format

Send to

Choose Destination
Eur J Hum Genet. 2000 Apr;8(4):247-52.

Reproductive and menstrual history of females with fragile X expansions.

Author information

1
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.

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.

PMID:
10854106
PMCID:
PMC3725540
DOI:
10.1038/sj.ejhg.5200451
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center