[Clinical investigation of male infertile patients with chromosomal anomalies].

We investigated 470 male patients who came to the Reproduction Medical Center of Yokohama City University Medical Center complaining of infertility between April 2,000 and August 2013. We analyzed the chromosomes of 90 patients whose sperm concentration was below 1.0 × 107/ml. Nineteen of the 90 (21.1%) patients showed sex chromosomal anomalies including 12 Klinefelter syndrome (47, XXY or 46, XY/47, XXY), Robertsonian translocation, 2 autosome-autosome translocation, Y-autosome translocation, 46, X with marker chromosome (46, Xmar⁺), XX male and Y chromosome macrodeletion (46, XYq-). While patients with chromosomal abnormalities except XX male or some of 46, XYq- may succeed in reproduction using testicular sperm extraction-intracytoplasmic sperm injection, we need to inform the patients about the risks of chromosomal abnormalities in the resulting fetus.