Does Genetics Play A Role in Male Infertility

Does Genetics Play A Role in Male Infertility?

Hereditary Cancer

4 min read

It can be frustrating when you’re trying to have a baby and it’s not happening.

While most couples have no issues trying to get pregnant, 10-15% will struggle with infertility. Infertility is defined as being unable to get pregnant within one year of unprotected sex if there’s no other health or age issues. There are many factors that play a role in male infertility, and one cause of it can be due to your genetics.

Concerns relating to males are present in about 30 percent of infertility cases and unexplained infertility in males make up 40-50% of these. The most common cause of infertility in males is related to problems with sperm and sperm production. This could be related to sperm counts, mobility, shortened life span or the sperm’s appearance.

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Cystic fibrosis Got it!

Men who have cystic fibrosis, 97-98 percent of them are considered infertile.

While they still produce sperm, the sperm as are not able to make it out of the testicles to become semen due to a blockage in the tube, called the vas deferens. In some cases, the vas deferens is missing completely. This is known as CBAVD, or congenital bilateral absence of the vas deferens. Sperm is present, but they are unable to leave the body out the urethra to be able to fertilize an egg. CBAVD is often associated with cystic fibrosis, so if a male is diagnosed with this, it’s recommended he undergo testing for cystic fibrosis. If this condition is caused by a genetic mutation in the CFTR gene , any future children a man may have are at an increased risk of being born with cystic fibrosis.

Y chromosome microdeletion This condition accounts for 5-10 percent of cases where men produce little to no sperm. This type of infertility is caused by changes in the Y chromosome.

This can be due to a loss of certain areas of the Y chromosome (known as deletions) or a change in a specific gene on the Y chromosome known as USP9Y. Men with Y chromosome microdeletion often don’t have any other symptoms. If they have children naturally, or through assisted reproductive technology, they will pass on this deletion to their son.

Klinefelter syndrome This is a genetic condition that occurs due to changes that happen during cell division after conception. Instead of a male baby inheriting an X and a Y chromosome, he inherits two Xs and one Y. This syndrome can affect the growth of the testicles which can lead to a lower amount of testosterone being produced. This hormone, along with others, is responsible for producing sperm. Males with Klinefelter can have trouble producing enough sperm to fertilize the mother’s egg.

Balanced translocations Balanced translocations can occur in both men and women, They are changes in areas of chromosomes that have broken off and have swapped

places with each other. They can cause couples to have recurrent miscarriages and may cause men to have issues with their semen. Embryos may develop abnormally because of the poor sperm quality and therefore could fail to implant in the mother’s uterus.

Genetic testing for male factor infertility Some of the most common tests include: Karyotyping- This is a visual picture of all 23 pairs of chromosomes that is created from a blood test. This can help doctors find a balanced translocation or abnormalities with the Y chromosome.

Y chromosome microdeletion testing- If tiny pieces of the Y chromosome are missing, a karyotype won’t pick it up. Instead, polymerase chain reaction(PCR) is a technique that amplifies these pieces to help make a diagnosis.

Cystic fibrosis gene testing- This blood test is used to find out if a man is a carrier for or has cystic fibrosis. It involves looking for mutations in the CTFR gene.

Treatment options Treatment of infertility in males depends on the cause. If it’s due to a genetic condition, one of the options that are available is in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). Embryos are created in a lab setting and are then tested to see if they contain a genetic mutation. The unaffected embryos can then be transferred into the mother’s uterus. The use of donor sperm is also an option. In some cases such as CBAVD, sperm can be surgically removed from the testes and joined with the mother’s egg in a lab setting, or used during intrauterine insemination.

GenomeSmart can help you decide what testing options are available for male factor infertility and assist you in growing your family.

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