Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data

TLDR

The study surveyed 760 women from fragile X families about their carrier status and reproductive histories, including 395 premutation carriers, 128 full mutation carriers, and 237 noncarriers. Sixty‑three premutation carriers (16%) experienced menopause before age 40, whereas none of the full‑mutation carriers and only one control did, indicating a significant association between premutation status and premature menopause. Published in Am.

Abstract

The preliminary results of an international collaborative study examining premature menopause in fragile X carriers are presented. A total of 760 women from fragile X families was surveyed about their fragile X carrier status and their menstrual and reproductive histories. Among the subjects, 395 carried a premutation, 128 carried a full mutation, and 237 were noncarriers. Sixty-three (16%) of the premutation carriers had experienced menopause prior to the age of 40 compared with none of the full mutation carriers and one (0.4%) of the controls. Based on these preliminary data, there is a significant association between fragile X premutation carrier status and premature menopause. Am. J. Med. Genet. 83:322–325, 1999. © 1999 Wiley-Liss, Inc.