X-chromosome abnormalities in women with premature ovarian failure

OBJECTIVE: To es,evaluate the significance of X-chromosome abnormalities id entified in a series of women with premature ovarian failure (POF). STUDY DESIGN: Karyotypes were reviewed for ail women referred to our cytoge netic laboratory over a five-year interval with the diagnosis of POF. Thirt y women aged less than 40 with unexplained secondary amenorrhea and elevate d follicle-stimulating hormone were included. RESULTS: Of the 30 patients, 26 had a normal karyotype and 4 showed the fol lowing X-chromosome abnormalities: 46,Xi(Xq), 45,X/46,XX mosaic, 46,X,der(X )t(X;Y)(q28;q12) mat and 46,X,t(X;5)(q22;q11.2) mat. In the two families wi th familial translocations, carrier females within each family showed consi derable variability in age at onset of menopause. CONCLUSION: Both familial and nonfamilial X-chromosome abnormalities can be identified in women with POF. Cytogenetic studies should not be limited to those patients with very-early-onset POF.