ABSTRACT
Infertility in the presence of a severe male factor such as oligoastenoteratospermia or azoospermia may be of genetic origin. This means that either the number or the structure of the chromosomes may be aberrant or a gene defect may be at stake. Genetic investigations are indicated in the case of male infertility for two major reasons. One reason is to understand more about the possible causes of azoospermia or oligoastenoteratospermia. Another reason is to be able to offer genetic counselling to the patient his partner, and his family whenever indicated. The role of genetic counseling in case of infertility has increased since the advent of assisted reproductive technology (ART) in general and certainly since the use of intracytoplasmic sperm injection (ICSI) offering the possibility to men with almost no spermatozoa to have children.1-3 In the clinic, genetic investigations are usually performed when the azoo-or oligospermia is part of a more complex disease or syndrome. On the basis of the data available today a number of genetic tests should also be performed in case of infertility in an otherwise healthy male. In most such cases it will today be sufficient to start with the analysis of the karyotype in peripheral lymphocytes, the search for the presence or absence of a Yq11 deletion on the long arm of the Y-chromosome and/or the analysis of the CFTR genes in couples in which the male partner has congenital bilateral absence of the vas deferens (CBAVD). More specific genetic investigations can be done if indicated.
