Male Infertility – Genetic Causes

Chromosomal abnormalities can be carried by one or both of the prospective parents and passed on to the developing fetus, which could cause a miscarriage. These abnormalities are only detectable in the parents by a blood test called a karyotype.

A common cause of chromosomal abnormalities is a translocation. While not correctable, diagnosis of a translocation in either parent allows for the next step of genetic counseling and assessment of a pregnancy’s success potential.

It is important to note that a successful prior pregnancy does not prove either parent is free of translocations that could affect a future pregnancy. If one or both parents are diagnosed with chromosomal abnormalities, they may elect for artificial insemination (if the male is diagnosed with a translocation) or egg donation (if the female is diagnosed with a translocation).

Types of chromosomal and genetic abnormalities

Chromosomal and genetic abnormalities associated with male infertility include Klinefelter’s syndrome, an occasional cause of the absence of sperm productions and other reproductive problems due to the presence of an extra X chromosome in the male. Noonan’s syndrome is a more unusual syndrome, carrying the symptoms of short stature, webbed neck, low set ears, and cardiovascular abnormalities. Other less common genetic abnormalities may also link to male factor infertility.