Fragile X premutation in women with sporadic premature ovarian failure in Slovenia

BACKGROUND: Fragile X premutation carriers are at increased risk of premature ovarian failure (POF), which is usually defined as menopause before the age of 40 years. METHODS: We evaluated 83 women with sporadic premature ovarian failure, treated at the Department of Obstetrics and Gynaecology, University Medical Centre, Ljubljana, between 1991 and 2001. There was no family history of mental retardation in any of the patients. They were phenotypically normal and had normal female karyotype (46,XX), without a past history of pelvic surgery, chemotherapy or autoimmune diseases. RESULTS: The premutation in the FRAXA locus was found in four of the women screened (4.8%; 95% confidence interval 1.9-11.7). This prevalence (1 in 21) was statistically significantly higher than expected in the female Caucasian population. CONCLUSION: In this study we have confirmed an important association between FRAXA premutation and the pathogenesis of POF. This result has practical implications for genetic counselling and fertility treatment.