DNA hybridization study using Y-specific probes in an XX-male

A 30-year-old male attended the Toyama Medical and Pharmaceutical University Hospital with the chief complaint of infertility. Physical examination showed bilateral small testes and the semen contained no sperm. Hormonal studies revealed hypergonadotropic hypogonadism and cytogenetic studies showed a 46,XX karyotype. High-resolution banding showed no abnormalities in both of the X chromosomes. Histological examination of both testes showed germinal aplasia and the proliferation of Leydig cells. The diagnosis of XX-male was made from the above findings. A DNA hybridization study using 17 Y-specific probes revealed the presence of a major part of the short arm of the Y chromosome, which had presumably been translocated to the X chromosome. The translocated Y short arm had a small deletion within it.