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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klinefelter syndrome


Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Klinefelter syndrome be treated?

Because symptoms of Klinefelter syndrome (KS) can sometimes be very mild, many people are never diagnosed or treated. When a diagnosis is made, treatment is based on the signs and symptoms present in each person. This may include:[1][2][3]
  • Educational interventions - As children, many people 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 people with KS have low testosterone levels, which may be raised by taking supplemental testosterone. Having a more normal testosterone level can help affected people 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. Some affected people may opt to have breast removal or reduction surgery.

The Eunice Kennedy Shriver National Institute of Child Health and Human Development's Web site offers more specific information on the treatment and management of Klinefelter syndrome. Please click on the link to access this resource.
Last updated: 10/13/2015

References
  1. Klinefelter syndrome. Eunice Kennedy Shriver National Institute of Child Health and Human Development. November 2013; http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx.
  2. Kirmse B. Klinefelter syndrome. MedlinePlus. November 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm.
  3. Chen H.. Klinefelter syndrome. Medscape Reference. July 2015; http://emedicine.medscape.com/article/945649-overview.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Klinefelter syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.