Testicular cancer is more common in men with Down syndrome compared to men without Down syndrome.
Health care providers can check for testicular cancer during an annual physical exam.
Testicular cancer is generally curable, especially if detected early.
Fertility may be affected if a testicle is removed as part of the treatment of the cancer.
While many solid tumor cancers are less common in people with Down syndrome compared to people without Down syndrome, testicular cancer is one type of solid tumor cancer that is more common in men with Down syndrome compared to men without Down syndrome. When we looked at data from people seen in our health system (Advocate Health Care), testicular cancer was more than 2.5 times more common in men with Down syndrome than in those without.
One reason testicular cancer may be more common in men with Down syndrome is because the incidence of cancer of the testicle is higher in men who have (or had) an undescended testicle, and undescended testicles are more common in men with Down syndrome.
What are symptoms of testicular cancer?
Symptoms of testicular cancer include:
An enlarged testicle
A palpable mass or lump in a testicle
A change in the texture (firmer, harder) of the testicle
Pain or discomfort in a testicle
An unusual collection of fluid in the scrotum
A dull ache in the abdomen, groin, or back
How is testicular cancer detected?
Periodic self-examination of the testicles can be useful in detecting testicular cancer. However, some men with Down syndrome have difficulty understanding what changes they should be checking for. An annual physical exam with a healthcare provider and a review of an individual's medical history are other ways to detect testicular cancer.
If an abnormality is found on exam, an ultrasound may be performed to further assess the abnormality. This is a painless procedure. A referral to a urologist is usually recommended, and blood tests and a CT scan are often ordered to check for possible spread of the disease.
How is testicular cancer treated?
Testicular cancer is generally curable, especially if detected early. In addition, as described above, no invasive testing is needed for screening (if both testicles are descended). Treatment usually involves surgically removing the testicle. An incision is made in the groin and the testicle is pulled out of the scrotum and surgically removed. The testicle is removed completely and not biopsied during the procedure because there are concerns that taking a biopsy of the testicle while the testicle is still in the body may cause the cancer to spread. After the surgery, radiation and/or chemotherapy may be recommended. It is important to follow-up with a urologist and/or oncologist as recommended to monitor for potential spread of disease that could not be detected previously.
Typically, testicular cancer only affects one testicle. However, if both testicles are removed, testosterone supplements may be needed.
How does testicular cancer impact fertility?
Sperm and hormones such as testosterone are produced in the testicle. If a testicle is removed, fertility is reduced. However, overall fertility is thought to be significantly reduced in men with Down syndrome whether they have had a testicle removed or not. The exact causes are not known. One reason may be that fertility of an undescended testicle is reduced even if surgically corrected, and undescended testicles are more common in men with Down syndrome. Other causes may include hormonal deficits, abnormal sperm, and/or atypical structure of the testicles.
There have been cases in which men with Down syndrome have fathered pregnancies, some of which have gone full-term and resulted in children. If an individual may like to try to father a child in the future, collection of sperm prior to surgery can be considered.
For additional information, please see the Cancer section of our Resource Library.
Chicoine B, McGuire D. Cancer. In: The Guide to Good Health for Teens & Adults with Down Syndrome. Bethesda, MD: Woodbine House;2010:189-195.
Hasle H, Friedman JM, Olsen JH, Rasmussen SA. Low risk of solid tumors in persons with Down syndrome . Genet Med. 2016;18(11):1151-1157. doi:10.1038/gim.2016.23
Hill DA, Gridley G, Cnattingius S, et al. Mortality and cancer incidence among individuals with Down syndrome . Arch Intern Med. 2003;163(6):705-711. doi:10.1001/archinte.163.6.705
Mayo clinic staff. Testicular cancer . Mayo Clinic website. Updated April 26, 2018. Accessed October 17, 2019.
Stefanidis K, Belitsos P, Fotinos A, Makris N, Loutradis D, Antsaklis A. Causes of infertility in men with Down syndrome . Andrologia. 2011;43(5):353-357. doi:10.1111/j.1439-0272.2010.01043.x