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Human Reproduction Update Advance Access published online on June 4, 2008
Human Reproduction Update, doi:10.1093/humupd/dmn017
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
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Cytogenetic determinants of male fertility

R.H. Martin1

Department of Medical Genetics, University of Calgary, Room 287, Heritage Medical Research Building, 3330 Hospital Drive NW, Calgary, Alberta, Canada T2N 4N1

To whom correspondence should be addressed at: 1E-mail: rhmartin{at}ucalgary.ca

BACKGROUND: Cytogenetic abnormalities have been known to be important causes of male infertility for decades.

METHODS: Research publications from 1978 to 2008, from PubMed, have been reviewed.

RESULTS: These studies have greatly improved our information on somatic chromosomal abnormalities such as translocations, inversions and sex chromosomal anomalies, and their consequences to the cytogenetic make-up of human sperm. Also, we have learned that infertile men with a normal somatic karyotype have an increased risk of chromosomally abnormal sperm and children. New techniques such as single sperm typing and synaptonemal complex analysis have provided valuable insight into the association between meiotic recombination and the production of aneuploid sperm. These meiotic studies have also unveiled errors of chromosome pairing and synapsis, which are more common in infertile men.

CONCLUSIONS: These studies allow us to provide more precise information to infertile patients, and further our basic knowledge in the causes of male infertility.

Key words: male infertility / meiosis / sperm aneuploidy / sperm chromosome abnormalities

Received on February 11, 2008; revised April 18, 2008; accepted on April 29, 2008


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