- Klinefelter's syndrome
- XXY syndrome
Your QuestionMy husband has Klinefelter syndrome. I have read a lot of things about this syndrome, but I want to know more about the future. He is 33-years-old, and he didn't take any medication for Klinefelter syndrome in the past. What is the chance of him becoming a father?
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Because XXY males do not really appear different from other males and because they may not have any or mild symptoms, XXY males often don't know they have Klinefelter syndrome (KS). Whether or not a male with KS has visible symptoms depends on many factors, including how much testosterone his body makes, if he is mosaic (with both XY and XXY cells), and his age when the condition is diagnosed and treated. Symptoms may include:
- Abnormal body proportions (long legs, short trunk, narrower shoulders and wider hips)
- Breast growth (gynecomastia)
- Infertility: Nearly all men with KS are unable to father a biologically-related child without help from a fertility specialist.
- Decreased sexual interest
- Less than normal amount of pubic, armpit, and facial hair
- Small, firm testicles
- Tall height
Boys with Klinefelter syndrome may also have learning disabilities and difficulty with speech and language development. They tend to be quiet, sensitive, and unassertive, but personality characteristics vary among males with this condition. 
Management options available to individuals with signs and symptoms of Klinefelter syndrome may include:
- Educational interventions – As children, many individuals with Klinefelter syndrome qualify for special services to help them in school. Teachers can also help by using certain methods in the classroom, such as breaking bigger tasks into small steps.
- Therapeutic options – A variety of therapists, such as physical, speech, occupational, behavioral, mental health, and family therapists, can often help reduce or eliminate some of the symptoms of Klinefelter syndrome such as poor muscle tone, speech and language problems, or low self-confidence.
- Medical management – About half of individuals with KS have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help individuals develop bigger muscles, a deeper voice, and facial and body hair. Many healthcare providers recommend testosterone therapy when a boy reaches puberty. However, not all males with KS benefit from testosterone therapy, and this therapy also may not be suitable for some individuals depending on gender identity. Some individuals may opt to have breast removal or reduction surgery.
Individuals with KS who would like to have children should discuss their options with their personal healthcare provider. Individuals with Klinefelter syndrome should not automatically assume they are infertile without thorough testing.
- Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebaek NE, Juul A. 47,XXY Klinefelter syndrome: clinical characteristics and age-specific recommendations for medical management. Am J Med Genet C Semin Med Genet. February 15, 2013; 163C(1):55-63.
- Klinefelter Syndrome: Condition Information. NICHD. November 15, 2013; http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/Default.aspx. Accessed 4/14/2015.
- What are common symptoms of Klinefelter syndrome (KS)?. Eunice Kennedy Shriver National Institute of Child Health and Human Development. http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/symptoms.aspx. Accessed 4/21/2015.
- Kirmse B. Klinefelter syndrome. MedlinePlus Web site. December 11, 2006; http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm. Accessed 4/1/2008.
- Klinefelter syndrome. Genetics Home Reference (GHR). 2006. Available at: http://ghr.nlm.nih.gov/condition%3Dklinefeltersyndrome.Accessed September 21, 2007..
- What are the treatments for symptoms in Klinefelter syndrome?. NICHD. November 30, 2012; http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/treatments.aspx. Accessed 9/17/2013.
- Klinefelter Syndrome. National Institute of Child Health and Human Development (NICHD) . November 2012; http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/Default.aspx. Accessed 8/21/2013.
- Aksglaede L, Juul A. Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review. Eur J Endocrinol. March 15, 2013; 168(4):R67-76.