Premature ovarian failure (POF) in Brazilian fragile X carriers

The gynecological and reproductive histories of 193 women from fragile X fa milies were surveyed. Among the 101 carriers of the premutation, 14 experie nced premature menopause, contrarily to their 37 fully mutated and 55 nonca rrier female relatives. Although premature menopause showed a tendency to c luster in certain fragile X families, as a group, the premutated women expe rienced menopause earlier than noncarriers. This suggests that premature me nopause may be the extreme effect of a spectrum of ovarian anomalies associ ated with the fragile X premutation.