[Chromosomal survey of 1001 subfertile males: incidence and clinical features of males with chromosomal anomalies]

Abstract

A chromosomal survey using the G-banding technique was performed on 1,001 subfertile males examined at Kyoto University Hospital between January, 1985 and April, 1991. Thirty-six of them had major chromosome anomalies (3.6%). The incidence of major anomalies for the 154 azoospermia patients, 326 oligozoospermia patients with a sperm density of less than 20 x 10(6)/ml, and 521 patients with normal sperm density was 10.4, 4.6, and 1.0%, respectively. The major anomalies found in azoospermic patients were associated with the sex chromosome, whereas autosomal anomalies were found in patients with oligozoospermia. The incidence of anomalies for patients with azoo- or oligozoospermia was significantly higher than that for patients with normal sperm density (p = 0.000003). All of the 12 patients with Klinefelter syndrome were azoospermic. However, the serum testosterone levels were within normal range in 10 of these patients. Testicular biopsies showed spermatogenic arrest in 5 of the 12 azoo- or oligozoospermic patients with structural chromosomal anomalies. Except for one patient, treatments such as varicocelectomy or medication were not effective in the patients with structural chromosomal anomalies. Chromosome studies are important in the evaluation of subfertile male patients with sperm densities less than 20 x 10(6)/ml. Disorders of the spermatogenic process may be directly related structural chromosomal anomalies in some of the patients.