Chromosomal variants among 1790 infertile men

Background: The largest cytogenetic survey involving infertile men was undertaken to clarify whether chromosomal abnormalities, including autosomal abnormalities, affect semen qualities. Method: All male patients who visited an infertility clinic from 1990 to 1998 underwent chromosomal and semen analysis. Results: Chromosomal abnormalities were found in 225 of 1790 patients (12.6%). The most frequent anomaly was Klinefelter syndrome (64 cases). Autosomal anomalies accounted for 126 cases. 46,XY,1qh(+) was the most common autosomal anomaly (30 cases) and its incidence was significantly higher than those of normal controls. The seminograms of these patients varied widely, with nine patients having azoospermia and three patients achieving natural pregnancies. It is not yet clear if this karyotype affects spermatogenesis. Conclusion: Autosomal anomalies as well as sex chromosomal abnormalities might affect spermatogenesis. Cytogenetic study is important before intracytoplasmic sperm injection.