Male infertility is diagnosed when a man has been unable to make a fertile woman pregnant after trying for at least a year. When caused by genetic factors, male infertility accounts for about 10 to 15 percent of cases of severe infertility. A man must produce healthy sperm in the right amounts to fertilize an ovum under normal circumstances.
However genetic causes such as gene mutations and chromosomal anomalies can result in production of abnormal sperm or low sperm count. Not only does this cause male infertility, but abnormal sperm also presents a high risk of fathering children with serious health conditions such as cystic fibrosis. The male children may also inherit the infertility.
An estimated 16 percent of males with infertility from genetic causes have chromosomal abnormalities. Testing for these disorders is extremely important when a couple is trying to conceive because of the risk of bearing children with infertility or abnormalities caused by chromosomal rearrangements.
One of the genetic causes of male infertility is the Y Chromosome microdeletions. In this case, some tiny parts on a region of chromosomes known as the AZFc may be missing (deletion). The genes located on this region on chromosomes usually play an important role in determining the formation of healthy sperm so when the genes are absent due to microdeletions, the body produces unhealthy sperm that may fail to fertilize an ovum. If fertilization happens to occur, the male infertility may be passed to the male children from their father.
Another genetic cause of male infertility is a congenital condition in which the vas deferens in a male is absent. This causes about 2 percent of male infertility and is usually characterized by zero sperm count (azoospermia). Congenital Bilateral Absence of the Vans Deferens (CBAVD) is caused by one or two mutations (one severe plus one mild or plus the 5T allele) in CFTR, the gene of which mutations are associated witho cystic fibrosis. This means that the risk of fathering children with cystic fibrosis is high in males with CBAVD. Children who are born with cystic fibrosis experience severe breathing problems because the condition causes several body glands to secrete large amounts of thick, sticky mucous.
Diagnosis for the genetic causes of male infertility and chromosomal abnormalities is usually made through testing including karytotype and molecular genetic analysis. Once a conclusive diagnosis is made, infertile males can still father children through procedures such as Intracytoplasmic Sperm Injections (ICSI). This procedure is part of IVF treatment (in vitro fertilization) that involves injecting an ovum with sperm directly. In addition, only healthy sperm is used in this treatment to minimize the risk of passing congenital disorders to children.
To learn more: Books and Publications on Male Infertility
An estimated 16 percent of males with infertility from genetic causes have chromosomal abnormalities. Testing for these disorders is extremely important when a couple is trying to conceive because of the risk of bearing children with infertility or abnormalities caused by chromosomal rearrangements.
One of the genetic causes of male infertility is the Y Chromosome microdeletions. In this case, some tiny parts on a region of chromosomes known as the AZFc may be missing (deletion). The genes located on this region on chromosomes usually play an important role in determining the formation of healthy sperm so when the genes are absent due to microdeletions, the body produces unhealthy sperm that may fail to fertilize an ovum. If fertilization happens to occur, the male infertility may be passed to the male children from their father.
Another genetic cause of male infertility is a congenital condition in which the vas deferens in a male is absent. This causes about 2 percent of male infertility and is usually characterized by zero sperm count (azoospermia). Congenital Bilateral Absence of the Vans Deferens (CBAVD) is caused by one or two mutations (one severe plus one mild or plus the 5T allele) in CFTR, the gene of which mutations are associated witho cystic fibrosis. This means that the risk of fathering children with cystic fibrosis is high in males with CBAVD. Children who are born with cystic fibrosis experience severe breathing problems because the condition causes several body glands to secrete large amounts of thick, sticky mucous.
Diagnosis for the genetic causes of male infertility and chromosomal abnormalities is usually made through testing including karytotype and molecular genetic analysis. Once a conclusive diagnosis is made, infertile males can still father children through procedures such as Intracytoplasmic Sperm Injections (ICSI). This procedure is part of IVF treatment (in vitro fertilization) that involves injecting an ovum with sperm directly. In addition, only healthy sperm is used in this treatment to minimize the risk of passing congenital disorders to children.
To learn more: Books and Publications on Male Infertility
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