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Male Infertility

Genetic Basis of Male Infertility

There now appears to be evidence that there is a genetic basis for male infertility is some cases. This is more relevant for men with oligospermia (abnormally low sperm count) and azoospermia (no sperm) due to spermatogenic failure. It has been shown that up to 20% of these men show either microdeletions on the Y chromosome or will have some chromosomal abnormality.

1. Microdeletions on the Y chromosome are in fact genes that are missing which are important for normal sperm production. It is now possible to perform a simple blood test to detect these microdeletions, known as the DAZ (Deletion Azospermia) test. Because male offspring receive the only copy of the Y chromosome from their father, it is probable that the genetic problem will be transferred and resultant male children will also have impaired fertility. However, these microdeletions do not appear to affect the development of healthy embryos and resultant children.

2. Chromosomal abnormalities can be detected by performing a karyotype test which is a microscopic examination of the chromosomes in a blood smear. Those men who have abnormal karyotypes and their partners will be referred for genetic counselling as there are obvious potential implications for any children. Examples of abnormal karyotypes are XXY, Kleinfelter’s Syndrome with an extra X chromosome or translocations on autosomal chromosomes.

3. A Cystic Fibrosis (C.F) screening test is also performed as a small percentage of these men have been found to be carriers of the C.F gene. An absence of the vas deferens on both sides is the most common congenital condition that causes obstructive azoospermia, and up to 75% of these men will carry the cystic fibrosis gene. It is therefore important that these men and their partners are also screened for cystic fibrosis, because there will be a 1:4 chance their children will have this disease if the wife is also a carrier of the C.F gene, or <1:400 if the wife is not a carrier.

Risk of Testicular Cancer

It has also been shown that men with infertility and low sperm counts have twice the risk of developing testicular cancer than the normal population. Therefore it is advised that men with fertility problems practice regular self-examination of their testes so that if hey find any lump or swelling this can be brought to the attention of their family doctor.

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