Genetic Causes of Male Infertility

Causes genetic male infertility

  • Male chromosomal abnormalities
  • Y chromosome deletions
  • Congenital absence of testicular deferens tubes

In chromosomal abnormalities, the sperm may not have the proper size, shape, structure or number of chromosomes. Abnormal sperm may not carry the DNA information necessary to create a pregnancy. Congenital Absence of Vas Deferens (CAVD) on the other hand, is a condition in which a man is born without a vas deferens, the tubes that carry sperm from the testes to ejaculation ducts. No tubes, no sperm, no fertility.

Symptoms of genetic causes of male infertility

There may not be any outward symptoms of male infertility due to genetic causes. If a couple has tried to get pregnant for a year or more, it is possible that the man may be infertile. Comprehensive semen analysis, DNA analysis and blood testing can diagnose male infertility.

Treatment for genetic causes of male infertility

In vitro fertilization (IVF) is the treatment of choice for genetic causes of male infertility. Couples should also consider pre-implantation genetic diagnostics to evaluate the risk of passing genetic conditions on to the baby.

For most men with genetic conditions causing infertility, intracytoplasmic sperm injection (ICSI) will be a necessary part of fertility treatment. This process involves injecting one healthy sperm directly into an egg with microscopic tools as a part of the IVF process.

More than 80% of men with CAVD are carriers of a genetic mutation known to cause cystic fibrosis. Although both parents must be carriers of the cystic fibrosis gene to pass the disease to their child, men with azoospermia or CAVD and their female partners should undergo testing to avoid passing on the cystic fibrosis gene.