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 blo od culture for chromosome studies revealed 46 chromosomes with XX constitut ion. Polymerase chain reaction (PCR) analysis of genomic DNA failed to dete ct 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 s howed that this case is the sixth reported case but the first to be diagnos ed during the investigations of infertility. The frequency, aetiology and d iagnosis of this rare syndrome are also reviewed.