Other Klinefelter Syndrome (KS) FAQs

Basic information for topics such as “What is it?” and “How many people are affected?” is available in the About section. In addition, frequently asked questions (FAQs) that are specific to a certain topic are answered in this section.

Males with KS are at higher risk for some other health conditions, for reasons that are not fully understood. But these risks can be minimized by paying attention to symptoms and treating them appropriately. Associated conditions include:

  • Autoimmune disorders, such as type 1 diabetes, rheumatoid arthritis, hypothyroidism, and lupus. In these disorders, the immune cells attack parts of the body instead of protecting them.
  • Breast cancer. Males with KS have a higher risk of developing this cancer, although still a lower risk than females’. XXY males should pay attention to any changes in their breasts, such as lumps or any leakage from the nipple, and should consult their health care provider right away if they have any concerns.
  • Venous disease, or diseases of the arteries and veins. Some of these include:

    • Varicose veins
    • Deep vein thrombosis, a blood clot in a deep vein
    • Pulmonary embolism, a blockage of an artery in the lungs

    To reduce their risk, males can keep a normal body weight; get regular, moderate physical activity; quit smoking; and avoid sitting or standing in the same position for long periods of time. If venous diseases develop, they can be treated in different ways, depending on their severity. For instance, some treatments include wearing compression socks and others require taking blood thinner medications.

  • Tooth decay. Almost half of men with KS have taurodontism, a dental problem in which the teeth have larger-than-normal chambers for holding pulp (the soft tissue that contains nerve endings and blood vessels) and shorter-than-normal tooth roots, both of which make it easier for tooth decay to develop. Regular dental check-ups and good oral hygiene habits will help prevent, catch, and treat problems.1
  • Osteoporosis , in which bones lose calcium, become brittle, and break more easily, may develop in KS males who have low testosterone levels for long periods of time. Testosterone treatment; regular, moderate physical activity; and a healthy diet can reduce the risk of osteoporosis. If the disease develops, medications can limit its severity.

Compared with the general male population, men with KS may have a higher chance over time of getting breast cancer, non-Hodgkin lymphoma, and lung cancer. There are ways to reduce this risk, such as removing the breasts and avoiding use of tobacco products. In general, XXY males are also at lower risk for prostate cancer.2

It is possible that an XXY male could get a woman pregnant naturally. Although sperm are found in more than 50% of men with KS,3 low sperm production could make conception very difficult.

A few men with KS have recently been able to father a biologically related child by undergoing assisted fertility services, specifically a procedure called testicular sperm extraction with intracytoplasmic sperm injection (TESE-ICSI). TESE-ICSI carries a slightly higher risk of chromosomal disorders in the child, including having an extra X.4

If someone you know is diagnosed with KS:

  • Recognize your feelings. It is natural for parents or family members to feel that they have done something to cause KS. But remember it is a genetic disorder that occurs at random—there is nothing you could have done or not done to prevent it from happening. Allow yourself and your family time to deal with your feelings. Talk with your health care provider about your concerns.
  • Educate yourself about the disorder. It is common to fear the unknown. Educate yourself about the XXY condition and its symptoms so you know how you can help your son, family member, or partner/spouse.
  • Support your son, family member, or partner/spouse. Provide appropriate education about KS and give him the emotional support and encouragement he needs. Remember, most XXY males go through life with few problems, and many never find out they have the condition.
  • Be actively involved in your son’s, family member’s, or partner’s/spouse’s care. Talk with your health care provider and his health care provider about his treatment. If counseling for behavioral problems is needed, or if special learning environments or methods are needed, get help from qualified professionals who have experience working with XXY males.
  • Encourage your son, family member, or partner/spouse to do activities to improve his physical motor skills, such as karate or swimming.
  • Work with your teachers/educators and supervisors/co-workers.
    • Contact these people regularly to compare how he is doing at home and at school/work.
    • When appropriate, encourage him to talk with his teachers, educators, supervisor, and co-workers. Suggest using brief notes, telephone calls, and meetings to identify problems and propose solutions.
  • Encourage your son’s, family member’s, partner’s/spouse’s independence. Although it is important to be supportive, realize that watching over too much can send the message that you think he is not able to do things on his own.
  • Share the following information with health care providers about XXY problems5:
XXY males may have:Consider recommending:
Delayed early expressive language and speech milestonesEarly speech therapy and language evaluation
Difficulty during the transition from elementary school to middle school or high schoolRetesting to identify learning areas that require extra attention at or before entrance to middle/high school
Difficulty with math at all agesTesting to identify problem areas and remediation for math disabilities
Difficulty with complex language processing, specifically with understanding and creating spoken languageLanguage evaluation, increased opportunities to communicate through written language, possibly getting written notes from lectures/discussions
Decreased running speed, agility, and overall strength in childhoodPhysical therapy, occupational therapy, activities that build strength

Research has identified some ways in which educators and parents can improve learning and communication among XXY males, including:

  • Using images and visual clues
  • Teaching them new words
  • Encouraging conversation
  • Using examples in language
  • Minimizing distractions
  • Breaking tasks into small steps
  • Creating opportunities for social interaction and understanding
  • Reminding them to stay focused


  1. Michael, J. (2008). Endodontic treatment in three taurodontic teeth associated with 48,XXXY Klinefelter syndrome: A review and case report. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology and Endodontology, 105(5), 670-677.
  2. Swerdlow, A.J., Schoemaker, M.J., Higgins, C.D., Wright, A.F., & Jacobs, P.A.; UK Clinical Cytogenetics Group. (2005). Cancer incidence and mortality in men with Klinefelter syndrome: A cohort study. Journal of the National Cancer Institute, 97(16),1204-1210.
  3. Paduch, D.A., Fine, R.G., Bolyakov, A., & Kiper, J. (2008). New concepts in Klinefelter syndrome. Current Opinion in Urology, 18(6), 621-627.
  4. Staessen, C., Tournaye, H., Van Assche, E., Michiels, A., Van Landryt, L., Devroey, P., et al. (2003). PGD in 47,XXY Klinefelter's syndrome patients. Human Reproduction Update, 9(4), 319-330.
  5. Simpson, J.L., de la Cruz, F., Swerdloff, R.F., Samanga-Sprouse, C., Skakkebaek, N.E., Graham, J.M. Jr., et al. (2003). Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genetics in Medicine, 5(6), 460-468.
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