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
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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.
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- More Detailed Information (Found: 7 Resources)
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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.
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Genetics Home Reference (GHR) contains a condition summary on Klinefelter syndrome. Click on the link to go to GHR and review this summary.
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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.
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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.
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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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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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