[Male infertility with chromosomal abnormalities. III. 46, XYq-]

A deletion of the long arm of the Y chromosome (46,XYq-) was found in two cases with normal male habitus but with azoospermia. The first case was of a 28-year-old married man, an office worker, complaining of infertility. His height was 153 cm, weight 57 kg and distance of extended hand 152 cm. Both testes were 13 ml in size. The second case was a 32-year-old married man, a fireman, complaining of infertility. His height was 160 cm, weight 64 kg and distance of extended hand 161 cm. Both testes were 10 ml in size. In each case, the external genitalia showed a normal male type, but azoospermia was identified in semen analysis. The testicular biopsy specimens revealed spermatogenic arrest with thickening of basement membrane. Chromosomal analysis showed 46,XYq- karyotype. Basal serum levels of luteinizing hormone and follicle-stimulating hormone were slightly elevated and the serum testosterone level was within normal limits. Eight cases of 46,XYq- karyotype in the Japanese literature including our cases were reviewed.