Causes of Infertility: Genetic Defects

Genetic defects are one of the many causes of infertility. This disorder involves the abnormalities of genes and chromosomes. Some men experience infertility and are distraught at not being able to produce an offspring (at times because of a genetic disorder).

Chromosomes and Male Infertility

Chromosomes play an important part when couples are trying to have a baby. Chromosomes are the genetic DNA that decides the body functions, and the sex and appearance for the new baby to come. In the human body, there are 46 chromosomes with 23 of each the mother and father that are needed to make and fertilize another human body. Fertility issues can arise if the chromosomes are not correct. Chromosome abnormalities may include too many or too little, changes with the data such as the shape and the size, or present but rearranged chromosomes (translocations). A chromosome analysis can detect problems to learn if there are genetic defects.

Usually, if there is a chromosome defect, it cannot be fixed unless a “Pre-implantation Genetic Diagnosis” (PGD) is done. This procedure isolates the eggs with the problems before they are implanted into the uterus. A PGD can be very costly, and it can be difficult to locate a specialist who can do the process, as it is a fairly new procedure. Most couples in this situation opt for a donor or an in-vitro fertilization procedure (process from which the eggs are fertilized by the sperm outside of the womb).

Y Chromosome Micro Deletion

Missing genes in the Y chromosome can cause male infertility. This genetic disease can be passed on to offspring, causing the sons to also have an abnormal Y chromosome. This contributes to a low sperm count or no sperm count at all. Medical studies have also shown that males who have this deletion of chromosomes are also more at risk to develop testicular cancer.

Klinefelter Syndrome

This is a genetic chromosomal abnormality where the men have an extra X sex chromosome. This condition may cause male infertility.

Pituitary Gland and Male Infertility

The pituitary gland is often referred to as the “master gland,” as it controls the functions of all of the organs and hormones, as well as fertility. If there is an abnormality with the genes, then impaired sperm production and infertility could occur. A congenital missing of LH/FSH (hormones released from the pituitary gland in the brain that stimulates the hormones) may cause infertility. If the pituitary gland cannot send the correct message to the testes, low testosterone levels can occur, with little or no sperm being produced.

Cystic Fibrosis

Many men who inherit this medical condition are born without a vas deferens, and may have obstructive azoospermia (no measurable level of sperm). Cystic Fibrosis may then be a cause of male infertility.

Sickle Cell Disease

This genetic disease affects the amount of normal hemoglobin that is produced in the body. A defect with hemoglobin can cause sperm abnormality.

Noonan Syndrome

Noonan Syndrome can be inherited and may be one of the causes of infertility. This genetic disorder causes the body to have abnormal developments which may include undescended testes. If both testes become undescended, then male infertility can occur.