[Chromosomal aberrations in cases of male infertility]

Mitotic chromosomal analysis was done on 130 cases of male infertility, 85 with azoospermia and 45 with oligospermia. Eighteen cases of chromosomal aberrations were found, consisting of eight cases of Klinefelter's syndrome, four with 46, XYq-(including one mosaic case), three translocations, one with 47, XYY, one with 46, XY, 15p+ and one with normal variant. Among these, 46 XYq- is a notable karyotype because it cannot be accurately diagnosed without Q-banding, and because 46, XYq- is important for determining the role of the locus on the long arm of the Y chromosome which is supposed to include spermatogenesis. Eleven cases of 46, XYq- in azoospermic males, including our cases, have been reviewed in the Japanese literature. Statistical analysis of the values of testicular volume and serum hormones in these azoospermia cases, revealed obvious differences between normal and abnormal karyotypes and also between 46, XYq- and Klinefelter's syndrome.