The role of Y chromosome deletions in male infertility

Division of Endocrinology, Metabolism and Molecular Medicine, Department of Internal Medicine, Charles R Drew University of Medicine and Science, 1731 East 120th Street, Los Angeles, California 90050, USA. kuma@cdrewu.edu

Male infertility affects approximately 2-7% of couples around the world. Over one in ten men who seek help at infertility clinics are diagnosed as severely oligospermic or azoospermic. Recent extensive molecular studies have revealed that deletions in the azoospermia factor region of the long arm of the Y chromosome are associated with severe spermatogenic impairment (absent or severely reduced germ cell development). Genetic research into male infertility, in the last 7 years, has resulted in the isolation of a great number of genes or gene families on the Y chromosome, some of which are believed to influence spermatogenesis.

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