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4 Genetic Causes of Male Infertility


Can You Still Become a Parent?

Getting pregnant is a complex process. Although it may seem pretty simple on the surface, a lot of things have to go right when you’re trying to conceive. Male factor infertility is diagnosed when there are problems with the male partner’s sperm or his ability to deliver it to the female partner’s uterus. Male factor is found in half of all couples who seek fertility treatment.

In some cases there are genetic defects that cause his sperm to be abnormal. Your fertility specialist may recommend genetic testing if his sperm count is very low or if no sperm are found in his semen, if his testicles are very small or there are other physical abnormalities, or if you have had several miscarriages. Your doctor may also recommend genetic counseling to help you determine if you can or should become a parent using his sperm and what alternatives are open to you. Following are some common genetic causes of male infertility.

Klinefelter Syndrome

Klinefelter syndrome happens when a man has an extra X chromosome, giving him XXY sex chromosomes instead of the usual XY. This is a fairly common genetic problem, occurring in one out of every 500 to 1,000 males. Men with Klinefelter syndrome have very low sperm counts or no sperm in the semen and lower than expected testosterone levels. They may be referred to a genetic counselor or endocrinologist to find out how this condition will affect their ability to have children. In some cases, men with Klinefelter syndrome will have sperm in their testicles which can be extracted and used to fertilize eggs in the embryology lab with intracytoplasmic sperm injection (ICSI.)

Cystic Fibrosis Gene Mutation

Cystic fibrosis is found in about one in 3,200 people of Caucasian ethnicity, according to the Cleveland Clinic. Recently, research has identified different forms of cystic fibrosis which can affect fertility in men only. Men with cystic fibrosis usually do not have a vas deferens, the tube that carries sperm from the testicles to the urethra. If the male partner is found to have this condition, genetic counseling will be recommended to discuss the need for testing the female partner to see if she is a carrier of a cystic fibrosis mutation and whether their child is at risk. Most men with this condition produce sperm normally, so it may be possible to extract sperm and use it to fertilize eggs in the lab with ICSI.

Y Chromosome Microdeletions

If portions of the Y chromosome are missing that relate to male fertility, it can affect a man’s fertility. Some cases of severe male infertility are caused by very small deletions of genetic material in regions that affect sperm cell development. The location of these deletions may help determine if it will be possible to find sperm in the testicles. If men with this condition have male children, either naturally or with assisted reproductive technology, this genetic condition will be passed on to them. Female children are not affected because they don’t have a Y chromosome (their sex chromosomes are XX.)

Other Chromosomal Problems

Other abnormalities can be found with genetic testing. Rarely, in cases of unexplained infertility or repeated miscarriages, one of the partners will be found to have chromosome rearrangements called balanced translocations. These may not cause health problems but may lead to infertility, miscarriages or having a child with developmental difficulties. If translocations are identified, your reproductive endocrinologist may recommend IVF with preimplantation genetic diagnosis (PGD.) PGD screens for specific genetic diseases or chromosomal disorders that may be present. This testing may be used when one or both partners has a history of genetic disorders or is a carrier of a chromosomal abnormality. A related procedure, preimplantation genetic screening (PGS) does not look for a specific disease but uses PGD techniques to look for embryos which may have abnormal numbers of chromosomes. In either of these procedures, your eggs would be fertilized in the embryology laboratory with the sperm, and any embryos would be genetically tested before being transferred into your uterus. This procedure makes it possible to select embryos for transfer that are unaffected by chromosomal abnormalities.

Donor Sperm as an Alternative

Genetic counseling is important to help you and your partner decide the best way for you to build your family. Some people will turn to donor sperm when genetic issues are present in the male. This decision can be a difficult one and may cause emotions of grieving or loss. Meeting with a counselor or mental health specialist may help you both deal with your feelings and come to a joint decision about how best to go forward. There are many ways to be a family. There is hope!