If you or your son is diagnosed with Klinefelter syndrome, early treatment can help minimize problems. You might work with a team of health care providers, including a doctor who specializes in diagnosing and treating disorders involving the body's glands and hormones (endocrinologist), a speech therapist, a pediatrician, a physical therapist, a genetic counselor, a reproductive medicine or infertility specialist, and a counselor or psychologist.
Although there's no way to repair the sex chromosome changes due to Klinefelter syndrome, treatments can help minimize its effects. The earlier a diagnosis is made and treatment is started, the greater the benefits. But it's never too late to get help.
Treatment for Klinefelter syndrome may include:
June 25, 2013
Testosterone replacement therapy. Males with Klinefelter syndrome don't produce enough of the male hormone testosterone, and this can have lifelong effects. Starting at the time of the usual onset of puberty, testosterone replacement can help treat or prevent a number of problems.
Testosterone may be given as an injection or with a gel or patch on the skin.
Testosterone replacement therapy allows a boy to undergo the body changes that normally occur at puberty, such as developing a deeper voice, growing facial and body hair, and increasing muscle mass and penis size.
Testosterone therapy can also improve bone density and reduce the risk of fractures. It will not result in testicle enlargement or improve infertility.
- Breast tissue removal. In males who develop enlarged breasts (gynecomastia), excess breast tissue can be removed by a plastic surgeon, leaving a more normal-looking chest.
- Speech and physical therapy. These treatments can help boys with Klinefelter syndrome overcome problems with speech, language and muscle weakness.
- Educational support. Some boys with Klinefelter syndrome have trouble learning and can benefit from extra assistance. Talk to your child's teacher, school counselor or school nurse about what kind of support might help.
Fertility treatment. Most men with Klinefelter syndrome are unable to father children, because no sperm are produced in the testicles. Some men with Klinefelter syndrome may have some minimal sperm production.
One option that may benefit men with minimal sperm production is a procedure called intracytoplasmic sperm injection (ICSI). During ICSI, sperm is removed from the testicle with a biopsy needle and injected directly into the egg.
Other alternatives for having children include adoption and artificial insemination with donor sperm.
- Psychological counseling. Having Klinefelter syndrome can be a challenge, especially during puberty and young adulthood. For men with the condition, coping with infertility can be difficult. A family therapist, counselor or psychologist can help you work through emotional issues.
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- Melmed S, et al. Williams Textbook of Endocrinology. 12th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/191205553-3/0/1555/0.html#. Accessed April 29, 2013.
- Wikstrom AM, et al. Klinefelter syndrome. Best Practice & Research Clinical Endocrinology & Metabolism. 2011;25:239.
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- Klinefelter syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed April 29, 2013.
- Klinefelter syndrome. National Institute of Child Health and Development. http://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/Default.aspx. Accessed April 29, 2013.
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