An Sry-Positive 46,XX Male

The 46,XX karyotype in a male is a rare sex chromosomal disorder. It mostly results from unequal crossovers between the X and Y chromosomes during meiosis. We here report a 32-year-old infertile male in whom seminal analysis showed azoospermia. Chromosomal analysis revealed a 46,XX karyotype and fluorescent in situ hybridization (FISH) showed the presence of the SRY gene. This report highlights the value of karyotyping and FISH analysis in cases of infertility.