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Beyond Hot Tubs and Boxers

Genetic Links to Male Infertility

By Kelly Burgess

While any test for male factor infertility begins with a sperm count, a high sperm count isn't necessarily an indicator of fertility. For example, many men have adequate sperm and semen production, yet still receive a diagnosis of infertility because their sperm is not effective at penetrating the egg to achieve fertilization. Sometimes, seemingly healthy sperm may have a genetic abnormality.

"Whenever you see a case of severe male factor infertility, part of workup should be a chromosomal analysis," says Dr. Leondires. "There have been a lot of recent findings on microdeletions of the Y chromosomes that are crucial genes for sperm production."

Aside from these microdeletions, which occur at a cellular level and are tricky to diagnose, other genetic factors include existing genetic conditions such as cystic fibrosis and polycystic kidney disease. Another important genetic component is age, which is an especially important consideration as people tend to have families at later and later ages.

"There is new data coming out of IVF literature suggesting that men over the age of 60 have more breakdown in their sperm genetics and that there may be a higher incidence of various disorders with older men," says Dr. Leondires. "Men probably have a biological clock just as women do, but the magnitude of its affect is smaller. We're just learning about this because it's only been recently that there have been enough men over te age of 60 trying to reproduce for us to even gather these statistics."