Genetic Causes of Male Infertility

Genetics & male infertility at a glance

  • Chromosomal abnormalities (called translocations) passed on from a parent to a developing fetus can cause a miscarriage.
  • Parents can be tested for chromosomal abnormalities, and if any are discovered reproductive technologies can help eliminate the abnormalities from being passed on.

What is a chromosomal abnormality?

If one or both of the prospective parents carry a chromosomal abnormality, it may be passed on to a developing fetus and cause pregnancy loss. These abnormalities will not show up in the parents and are only diagnosed by examination of their blood with a test called a karyotype.

These chromosomal abnormalities, typically called translocations, are not correctable but diagnosis of a translocation in one or both prospective parents will allow for genetic counseling and accurate assessment of the chances of having a successful pregnancy.

It’s important to note that a prior successful pregnancy and birth of a healthy child does not eliminate the chance of a parent having a translocation. If any chromosomal abnormalities are discovered, the couple may elect for artificial insemination (if the male has the translocation) or egg donation (if the female has the translocation).

Types of chromosomal or genetic abnormalities

Klinefelter’s syndrome, the presence of an extra X chromosome in the male, is an occasional cause of the absence of sperm production and other reproductive abnormalities.

Noonan’s syndrome is more unusual, with the symptoms of short stature, webbed neck, low set ears, and cardiovascular abnormalities.

Other less common genetic abnormalities may be associated with male factor infertility.