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 compl ete masculinization and azoospermia. Analysis of the patient's deoxyri bonucleic acid failed to detect the azoospermia factor (AZF) region. L ack of germ cell elements on subsequent testicular biopsy illustrates the importance of the AZF region for spermatogenesis. Discussion conce rning the genetics of testicular and germ cell formation is undertaken in the context of the patient presented. Copyright 1996 by Elsevier S cience Inc.