Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Klinefelter's syndrome
  • 47,XXY
  • XXY syndrome
  • XXY trisomy
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Klinefelter syndrome
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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. May 27, 2008 Available at: http://www.genome.gov/19519068. Accessed December 10, 2008.

Questions & Answers (Found 2 Questions)
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For more information about Klinefelter syndrome click on the boxes below:
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More Detailed Information (Found 7 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • eMedicine 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
    • 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. 
    • Genetics Home Reference (GHR) contains a condition summary on Klinefelter syndrome. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • 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 NORD link to view the information page on Klinefelter syndrome.
    • 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.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

  • Past Conferences

    • XXY/Klinefelter Syndrome in 2000: Expanding the Phenotype and Identifying New Research Directions, August 31, 2000 - August 30, 2000
      Location: NIH Campus, Bethesda, MD
      Description: The clinical and research objectives of this conference were to summarize current knowledge concerning the incidence of Klinefelter syndrome and its genetic (cytologic) basis, clarifying the role X-inactivation plays in the widely varied phenotype; summarize the spectrum of clinical features in XXY Klinefelter syndrome—reproductive dysfunction, structural anomalies, and neurologic/cognitive/behavioral dysfunction; review current treatment and management of hormonal deficiency, infertility, and neurologic/behavioral perturbation; summarize current beliefs concerning the biologic basis of functional defects; and delineate those new research areas that would benefit from more focused attention.
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Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

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  • Disease-Specific Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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Clinical Trials & Research (Found 1 resource)
Resources where you may find research studies and clinical trials

    • 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.

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