Genetics and Male Infertility

The first step in a genetic evaluation of male infertility is careful review of family history, paying special attention to any family member with recurrent miscarriages, occurrence of unexplained stillbirth, birth defects, mental retardation, genetic disorders, and early age-onset cancers, to name only a few issues of consequence.

The second step is a complete physical examination followed in particular by examination of the testicles and the vas deferens on both sides (the tubes through which sperm is transported from testes through the penis). Penile size is rarely an issue.

The third step is to examine a fresh semen sample, including sperm number, physical appearance, and how well the sperm move. There is often a marked reduction in the number of sperm expected (called oligospermia) and on occasion, not a single sperm can be detected (called azoospermia).