X-chromosome abnormalities in women with premature ovarian failure.

Objective: To evaluate the significance of X-chromosome abnormalities identified in a series of women with premature ovarian failure (POF).

Study Design: Karyotypes were reviewed for all women referred to our cytogenetic laboratory over a five-year interval with the diagnosis of POF. Thirty women aged less than 40 with unexplained secondary amenorrhea and elevated follicle-stimulating hormone were included.

Results: Of the 30 patients, 26 had a normal karyotype and 4 showed the following 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 with familial translocations, carrier females within each family showed considerable 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.