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Klinefelter Syndrome

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Copyright 1986, 1990, 1993, 1998, 1999, 2007, 2008

NORD is very grateful to Jeannie Visootsak, MD, FAAP, Assistant Professor, Developmental-Behavioral Pediatrics from the Department of Human Genetics & Pediatrics at Emory University School of Medicine for updating this report.

Synonyms of Klinefelter Syndrome
  • No synonyms found

Disorder Subdivisions

  • No synonyms found


General Discussion
Klinefelter syndrome is a group of chromosomal disorders in males in which one or more extra X chromosomes are present. Males with the classic form of the disorder have one extra X chromosome. Males with variant forms of Klinefelter syndrome have additional X and/or Y chromosomes. The extra X and/or Y chromosome can effect physical and intellectual development. Common physical features may include small testes (hypogonadism), , delayed pubertal development, and breast development (gynecomastia) in late puberty. These features may be associated with low testosterone level and elevated gonadotropin levels.

Organizations related to Klinefelter Syndrome
  • 49XXXXY
    870 Miranda Green
    Palo Alto CA 94306
    Phone #: 360-892-7547
    800 #: --
    e-mail: epwatzka@pacbell.net
    Home page: http://www.xxxxysyndrome.com/index.htm
  • American Association for Klinefelter Syndrome Information and Support
    2945 West Farwell Ave.
    Chicago IL 60645-2925
    Phone #: 773-761-5298
    800 #: 888-466-5747
    e-mail: KSinfo@aaksis.org
    Home page: http://www.aaksis.org
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: ordr@od.nih.gov
    Home page: http://rarediseases.info.nih.gov/Default.aspx
  • Klinefelter Syndrome & Associates (KS&A)
    P.O. Box 461047
    Aurora CO 80046-1047
    Phone #: 303-400-9040
    800 #: 888-999-9428
    e-mail: info@genetic.org
    Home page: http://www.genetic.org
  • Klinefelter Syndrome Association of Canada
    1001 Queen Street West
    Unit 3
    2nd Floor
    Toronto
    Ontario None M6J 1H4
    Phone #: 416-535-8501
    800 #: --
    e-mail: drabinovitch@hotmail.com
    Home page: N/A
  • Klinefelters Syndrome Support Group of Australia (K.S.S.G)
    None
    Kellyville, New South Wales None 2155
    Phone #: 04 -072-62398
    800 #: N/A
    e-mail: YATESBECKS@bigpond.com
    Home page: N/A
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-997-4488
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • NIH/National Institute of Child Health and Human Development
    31 Center Dr
    Building 31, Room 2A32
    MSC2425
    Bethesda MD 20892
    Phone #: 301-496-5133
    800 #: --
    e-mail: N/A
    Home page: http://www.nichd.nih.gov/
  • XXYY Project
    PO Box 460265
    Aurora CO 80046-0628
    Phone #: 303-400-3456
    800 #: 888-503-3456
    e-mail: info@xxyysyndrome.org
    Home page: http://www.xxyysyndrome.org

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Last modified Wednesday, November 26, 2008