Background: The largest cytogenetic survey involving infertile men was unde
rtaken to clarify whether chromosomal abnormalities, including autosomal ab
normalities, affect semen qualities.
Method: All male patients who visited an infertility clinic from 1990 to 19
98 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). Autosoma
l anomalies accounted for 126 cases. 46,XY,1qh(+) was the most common autos
omal anomaly (30 cases) and its incidence was significantly higher than tho
se of normal controls. The seminograms of these patients varied widely, wit
h nine patients having azoospermia and three patients achieving natural pre
gnancies. It is not yet clear if this karyotype affects spermatogenesis.
Conclusion: Autosomal anomalies as well as sex chromosomal abnormalities mi
ght affect spermatogenesis. Cytogenetic study is important before intracyto
plasmic sperm injection.