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Klinefelter syndrome

Other Names for this Disease
  • 47,XXY
  • Klinefelter's syndrome
  • XXY syndrome
  • XXY trisomy
More Names
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Overview


Klinefelter syndrome is a chromosomal disorder that occurs in men and is typically caused by the presence of an additional X chromosome. Men with Klinefelter syndrome have two copies of the X chromosome, instead of the usual one copy. The extra chromosome X may affect physical, social, and language development. Symptoms differ from person to person. Treatment may include testosterone replacement therapy.[1]


References

  1. Learning about Klinefelter syndrome. National Human Genome Research Institute (NHGRI) Web site. http://www.genome.gov/19519068. Accessed December 10, 2008.
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General Information

  • The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic. 
  • The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
  • Genetics Home Reference (GHR) contains information on Klinefelter syndrome. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Klinefelter syndrome. Click on the link to view a sample search on this topic.