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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Klinefelter syndrome


Other Names for this Disease
  • Klinefelter's syndrome
  • XXY syndrome
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Symptoms


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What are the signs and symptoms of Klinefelter syndrome?

The most common symptom of Klinefelter syndrome is infertility. Other symptoms may include:

  • Small, firm testicles
  • Small penis
  • Only a small amount of body hair
  • Sexual difficulties
  • Enlarged breasts (gynecomastia)
  • Tall height
  • Abnormal body proportions (long legs, short trunk)

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. [1]

Last updated: 3/3/2010

References
  1. Kirmse B. Klinefelter syndrome. MedlinePlus Web site. December 11, 2006; http://www.nlm.nih.gov/medlineplus/ency/article/000382.htm. Accessed 4/1/2008.