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Volume 14, Issue 1 (January 2012) 14, 40–48; 10.1038/aja.2011.67

Genetic causes of spermatogenic failure

Annelien Massart1,2, Willy Lissens1,2, Herman Tournaye3,4 and Katrien Stouffs1,2

1 Center for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Brussels, Belgium
2 Reproduction and Genetics (REGE), Vrije Universiteit Brussel, 1090 Brussels, Belgium
3 Center for Reproductive Medicine, Universitair Ziekenhuis Brussel, 1090 Brussels, Belgium
4 Biology of the Testis (BITE), Vrije Universiteit Brussel, 1090 Brussels, Belgium

Correspondence: Professor K Stouffs, (katrien.stouffs@uzbrussel.be)

Received 10 May 2011; Revised 1 August 2011; Accepted 11 August 2011; Published online 5 December 2011


Approximately 10%-15% of couples are infertile, and a male factor is involved in almost half of these cases. This observation is due in part to defects in spermatogenesis, and the underlying causes, including genetic abnormalities, remain largely unknown. Until recently, the only genetic tests used in the diagnosis of male infertility were aimed at detecting the presence of microdeletions of the long arm of the Y chromosome and/or chromosomal abnormalities. Various other single-gene or polygenic defects have been proposed to be involved in male fertility. However, their causative effects often remain unproven. The recent evolution in the development of whole-genome-based techniques and the large-scale analysis of mouse models might help in this process. Through knockout mouse models, at least 388 genes have been shown to be associated with spermatogenesis in mice. However, problems often arise when translating this information from mice to humans.

Keywords: genetic causes; gene; male infertility; spermatogenesis

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Asian Journal of Andrology CN 31-1795/R ISSN 1008-682X  Copyright © 2023  Shanghai Materia Medica, Chinese Academy of Sciences.  All rights reserved.