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Human Reproduction Update Advance Access originally published online on October 1, 2004
Human Reproduction Update 2004 10(6):533-539; doi:10.1093/humupd/dmh045
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Human Reproduction Update vol. 10 no. 6 © European Society of Human Reproduction and Embryology 2004; all rights reserved

Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding

Judith Gianotten1,5, M.Paola Lombardi2, A.H. Zwinderman3, Richard J. Lilford4 and Fulco van der Veen1

1 Center for Reproductive Medicine, 2 Department of Clinical Genetics and 3 Department of Clinical Epidemiology and Biostatistics, Academic Medical Center, Amsterdam, The Netherlands and 4 Department of Public Health and Epidemiology, University of Birmingham, UK

5 To whom correspondence should be addressed at: Center for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Center, Meibergdreef 9, H4-205, 1105 AZ Amsterdam, The Netherlands. Email: j.gianotten{at}amc.uva.nl

The aetiology of impaired spermatogenesis is unknown in the majority of subfertile men. From several studies of concordance for involuntary childlessness among men, we can conclude that there is a substantial familial component in male subfertility and that shared loci segregating through families can be assumed. We now know that deletions on the Y chromosome, which do not penetrate fully, account for some of these cases. There are good reasons to suspect that other cases result from mutations in genes located elsewhere in the genome. In this article, we discuss different approaches to unravelling the molecular basis of impaired spermatogenesis originating from genetic abnormalities in chromosomes other than the Y chromosome. Genetic mapping studies are in general a good approach to detect disease-causing genes that are segregating through a population; they can provide a shortcut to unravelling the biochemistry of a disease. In this paper, we explain our reasons for arguing that linkage and association studies are no promising means to identify the genes causing impaired spermatogenesis. We conclude that direct screening of candidate genes for mutations will be necessary to detect genes involved in impaired spermatogenesis. However, this approach requires studies of the biochemical pathways of normal and abnormal spermatogenesis. Since we have a poor understanding of these pathways, more research is needed into the biochemistry of spermatogenesis.

Key words: gene mutations / male infertility / spermatogenesis / Y chromosome / genetic epidemiology


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