The relevance of chromosomal aberrations in male infertility

Based on the results of chromosome analysis from cell cultures and testis b iopsies, the incidence of chromosomal abnormalities in infertile men is up to 20%. Chromosomal analysis from peripheral blood cultures is a routine pr ocedure while the analysis of meiotic chromosomes is labor intensive and ma inly used in a scientific setting. Of all infertile males, 7-9% show numeri cal and/or structural chromosomal abnormalities in their peripheral blood l ymphocytes. There is an inverse correlation between sperm count and the inc idence of chromosomal abnormalities, with 21% of patients with non-obstruct ive azoospermia having a chromosomal abnormality, most often Klinefelter's syndrome. The rate of patients with chromosomal abnormalities is only 9% in patients with severe oligozoospermia (less than 5 million/ml),and structur al abnormalities are found more often in this group. Using fluorescence in situ analysis the number of selected chromosomes can be assayed in single s perm cells. There is no consensus on whether infertile men have a higher pr oportion of aneuploid (disomic) sperm cells than fertile men. Taking into a ccount the results from meiotic studies in infertile men,an increased rate of aneuploid sperm cells is likely. Chromosomal analysis should be performe d on all infertile men being treated with ICSI as the result of this analys is could have important consequences in their reproductive decisions.