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Unravelling the genetics of spermatogenic failure

Department of Obstetrics and Gynecology, Centre for Reproductive Medicine, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands

Correspondence should be addressed to S Repping; Email: s.repping{at}amc.uva.nl

Subfertility, defined as the inability to conceive within 1 year of unprotected intercourse, affects 10–15% of couples. In up to 55% of couples, the male partner is diagnosed with spermatogenic failure, i.e. one or more semen parameters fall below the WHO criteria for normozoospermia. In these cases, assisted reproductive technology is usually used to achieve pregnancy. Both genetic and environmental factors are thought to underlie spermatogenic failure. Despite years of research, only few genetic factors have clearly been shown to cause spermatogenic failure, and the identification of additional genetic causes or risk factors has proven to be extremely difficult. In this review, we will present an overview of established genetic causes of spermatogenic failure, describe pitfalls in searching for novel genetic factors and discuss research opportunities for the future.