Genetic Infertility
Genetic Abnormalities Which May Cause Infertility
How some forms of infertility may be caused by a genetic defect.
Did you know that fertility problems may sometimes be caused by genetic defects in the prospective parents? There are a number of conditions which can result in infertility, which could simply be nature's way of protecting itself. Those with defects are rendered infertile to stop the defect from being reproduced in their offspring. It's mother nature's insurance policy.
Things That Could Go Wrong:
Y Chromosome Micro Deletion
Some men have a partial deletion of their Y chromosome (missing genetic information from the male chromosome). This is a common cause of low sperm count (less than 5 million sperm per ml of semen) and total absence of sperm. These mirco deletions which affect fertility occur in the long arm of the Y chromosome and are known as azoospermia factor regions (AZF). Scientists have discovered three types of micro deletion, called AZFa, AZFb and AZFc. These three types are all associated with male infertility. The concerning thing is that it was recently found that offspring born to men with this genetic disorder could inherit the abnormal Y chromosome and become infertile later in life, or suffer with low sperm count problems.
According to the journal, Molecular Human Reproduction, men who have the micro deletion are also at heightened risk of developing testicular cancer. ("Y chromosome haplogroups and susceptibility to testicular cancer", Mol. Hum. Reprod., September 1, 2007; 13(9): 615 - 619).
Pituitary Gland Abnormalities
There are genes which allow the pituitary gland in the brain to function correctly. This is the 'control center' of the brain and this gland regulates the functions of all of the body's organs and hormones, including fertility. If one of the genes (the building blocks) governing reproduction for the pituitary gland is abnormal, then this could cause infertility problems. This area in the body is called the Hypothalamic- Pituitary-Gonadal-Axis.
If affected by a gene disorder here, boys may fail to go into puberty, or a man may have under developed testicles, abnormal sperm and other infertility problems. He may even suffer with subsequent adrenal failure.
Depending on the type of gene affected, females may also fail to go into puberty. Some begin menstruation normally but in later years are affected by amenorrhea (absence of periods).
What Can Be Done To Help?
In the case of known hormonal deficits, hormone therapy may be employed to treat your condition before you have children. This may be enough to restore fertility. Otherwise there is IVF, and use of donor eggs and sperm.
You should be offered counseling prior to any decision regarding having children, as there is a chance of passing on your genetic condition to your children. This means that your children could suffer from fertility problems. You may wish to use donated sperm or eggs to safeguard against this eventuality.
