Azoospermia in a 46,XX/47,XXX phenotypic male

We report the unique case of a 34-year-old 46,XX/47, XXX man with complete masculinization and azoospermia. Analysis of the patient's deoxyribonucleic acid failed to detect the azoospermia factor (AZF) region. Lack of germ cell elements on subsequent testicular biopsy illustrates the importance of the AZF region for spermatogenesis. Discussion concerning the genetics of testicular and germ cell formation is undertaken in the context of the patient presented.