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Jay Flanagan, MS, CGC

Questions about Male Fertility? Genetic Counselors Have Answers

“We have to use a sperm donor,” my patient explained. “My husband was diagnosed with testicular cancer at the age of 30, but no one mentioned to us that he might not have sperm after treatment. I guess we just assumed that if he still had one testicle, we would be able to have children on our own.” 

I’m a genetic counselor who works in a reproductive center. I sometimes see men who weren’t told that cancer treatments could significantly impact their chances of having children, and this isn’t only with the people I see. One study found that 50 percent of healthcare providers never introduce the topic, which is in contrast to 51 percent of the men saying they wanted to father a child in the future. In fact, 60 percent of the men said they didn’t know that cancer therapy could cause infertility (1).

Cancer is just one example of a situation when a man might consider sperm retrieval to save it for the future. In my last blog post, I discussed the reasons a woman might consider fertility preservation. This post is about male fertility preservation, in other words to save or protect sperm so there is the option of having biological children in the future.

Fertility Preservation Due to Cancer

With advances in cancer care, more young patients are surviving the disease and hoping to have families. However, common cancer treatments such as chemotherapy and radiation, and even the cancer itself, can significantly damage fertility. For example, some chemotherapy regimens have between an 85-100 percent chance of causing azoospermia (no sperm) after treatment. Even if men do produce sperm after chemotherapy, there is greater risk for genetic defects in the sperm.

All men and boys past the age of puberty with cancer should be offered fertility preservation before they begin treatment. Most who choose the option – 90 percent – will be able to produce a sperm sample that can be preserved for future use.

Fertility Preservation for Age

There is no defined advanced age for male fertility, though today it is now considered to be around 40. Studies show a greater risk at that age for infertility, miscarriage, birth defects and even childhood cancer.

A man’s age is also associated with an increased risk for certain genetic conditions. While the overall risk is low, as a man ages there is an increased risk for new gene mutations to occur. Some genetic conditions associated with age include skeletal dysplasias, such as Apert syndrome or thanatophric dysplasia, that result in abnormal shapes and sizes of bones and tissue.

Older parents – both men and women – are more likely to pass extra or missing chromosomes to the baby, which can result in genetic disorders. Perhaps the best known of these disorders is Down syndrome (Trisomy 21), in which one parent passes an extra copy of chromosome 21 to the baby. Other concerns caused by extra, duplicate or missing chromosomes include developmental delays, infertility or miscarriage. In men it’s estimated that the risk for passing along this incorrect amount of genetic material doubles every 10 years after the age of 25.

And finally, a population study showed that female partners of men older than 45 were more likely to have pregnancy complications including blood pressure disorders, fetal death and preterm delivery. 

Genetic Conditions May Cause Infertility

Some genetic conditions are more likely to lead to male infertility. About 95 percent of men with cystic fibrosis (CF) are missing vas deferens, the tube that transports sperm, and will need to consult a reproductive specialist or urologist. A urologist may be able to perform a procedure to retrieve sperm. In about 90 percent of cases, usable sperm will be found. Treatment options for a genetic condition may also affect fertility. For example, when men with CF require a lung transplant, post-transplant medications may harm sperm. Fertility preservation should be offered prior to a transplant. 

Other genetic conditions may alter sperm production throughout life. One common genetic condition, XXY, is known to cause azoospermia. About 40 percent of men with XXY, a condition which refers to an extra X chromosome in most cells, do produce viable sperm that can be retrieved, though retrieval is more successful in younger men. 

Other Reasons to Consider Fertility Preservation

There may be other reasons for a man to consider sperm retrieval. For example, sperm can be stored prior to having a vasectomy, should a man want the option to have biological kids in the future. Fertility preservation may also be desired in individuals considering gender reassignment. And finally, fertility preservation may be considered for men with medical conditions like diabetes, retrograde ejaculation (when semen enters the bladder instead of the urethra during ejaculation), multiple sclerosis or spinal cord injuries. 

Considerations Before Making a Decision

Not all fertility preservation clinics are equal. Speak with a reproductive endocrinologist or urologist to find a facility that is right for you and learn more about costs. The cost of storing the sperm usually involves an upfront payment and a storage fee. The storage fee is typical $300-500 per year. 

In addition, there are some cultural and religious views that can complicate whether a man will choose to use fertility preservation. While masturbation is the preferred method to obtain a sample, there are other options that may be appropriate and fit within the medical, social, or cultural reasons for seeking preservation.

Next steps for Your Fertility

If you have questions about your future fertility, speak with your healthcare provider or genetic counselor. In many cases, they will refer you to a reproductive specialist who will help guide you through the process. If you would like to learn more or find a specialist yourself, visit ReproductiveFacts.org.

You may also benefit from visiting with a genetic counselor who specializes in reproductive genetics. A genetic counselor can walk you through family history and genetic or age-related risks. You will also discuss testing options for both you, your partner and potential embryos. To find a reproductive genetic counselor, visit FindaGeneticCounselor.com.

Jay Flanagan, MS, CGC, is the National Society of Genetic Counselors Reproductive Health Expert with a focus on infertility genetics. He’s a preconception/prenatal genetic counselor at Sanford Health in Sioux Falls, South Dakota. 


Moss, Jared L., Male adolescent fertility preservation. Fertility and Sterility® Vol. 105, No. 2, February 2016 0015-0282

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