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 de®ned as menopause before the age of 40 years. METHODS: We evaluated 83 women with sporadic pre-mature 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 % con®dence interval 1.9±11.7). This prevalence (1 in 21) was statistically signi®cantly higher than expected in the female Caucasian population. CONCLUSION: In this study we have con®rmed an important association between FRAXA premutation and the pathogenesis of POF. This result has practical implica-tions for genetic counselling and fertility treatment. Key words: FRAXA premutation/sporadic premature ovarian failur