Deoxyribonucleic acid study on 2 XX male patients

Two XX male patients were examined for the presence of 25 Y-specific loci using Southern blot analysis and polymerase chain reaction techniques. They were phenotypically normal male patients, although 1 had bilateral undescended testes and 1 had hypoplastic testes. The former patient had 10 of 11 loci on the short arm, while the latter lacked any of the 25 Y-specific loci. These findings may suggest the existence of a non-Y gene that is controlled by the testis-determining factor on the short arm of the Y chromosome and has a role in the testis formation in man.