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).


METHODS
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.


CONCLUSIONS
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.
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D003582:Cytogenetics; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D008593:Menopause / Q000235:genetics; D009030:Mosaicism / Q000235:genetics; D018579:Patient Selection; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics; D014960:X Chromosome