XX males without SRY gene and with infertility

The case of a 28 year old male with normal male phenotype, in whom repeated seminal analysis showed complete azoospermia, is presented. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Polymerase chain reaction (PCR) analysis of genomic DNA failed to detect the presence of the sex-determining region of the Y chromosome (SRY). A literature review of all SPY-negative XX males with normal male phenotype showed that this case is the sixth reported case but the first to be diagnosed during the investigations of infertility. The frequency, aetiology and diagnosis of this rare syndrome are also reviewed.