Health Encyclopedia

 

 

Klinefelter Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Klinefelter Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • KS
  • XXY male
  • XX male
  • XXYY male
  • XXXY male
  • XXXXY male

Disorder Subdivisions

  • None

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 affect physical, developmental, behavioral, and cognitive functioning. Common physical features may include tall stature, lack of secondary pubertal development, 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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



49 XXXXY

870 Miranda Green

Palo Alto, CA 94306

USA

Tel: (360)892-7547

Email: epwatzka@gmail.com

Internet: http://www.xxxxysyndrome.com/index.htm



Klinefelter Syndrome Association of Canada

42 Ritson Road South, Upper floor,

Oshawa

Ontario, L1H 5G9

Canada

Tel: 9059262942

Email: dj.rabinovitch@gmail.com



NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

MSC2425

Bethesda, MD 20892

Fax: (866)760-5947

Tel: (800)370-2943

TDD: (888)320-6942

Email: NICHDInformationResourceCenter@mail.nih.gov

Internet: http://www.nichd.nih.gov/



American Association for Klinefelter Syndrome Information and Support

c/o Roberta Rappaport

2945 W. Farwell Avenue

Chicago, IL 60645-2925

USA

Tel: (773)761-5298

Fax: (773)761-5298

Tel: (888)466-5747

Email: KSinfo@aaksis.org

Internet: http://www.aaksis.org



Klinefelters Syndrome Support Group of Australia

Kellyville

New South Wales, 2155

Australia

Tel: 04 25240773

Email: YATESBECKS@bigpond.com



XXYY Project

PO Box 2172

Littleton, CO 80161-2172

USA

Tel: (215)394-5942

Email: inquiry@xxyysyndrome.org

Internet: http://xxyysyndrome.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Klinefelter Syndrome & Associates

P.O. Box 872

Pine, CO 80470-0872

Tel: (303)400-9040

Fax: (303)838-0753

Tel: (888)999-9428

Email: info@genetic.org

Internet: http://www.genetic.org



Focus Foundation, Inc.

PO Box 190

Davidsonville, MD 21035

Tel: (443)223-7323

Fax: (410)798-4801

Email: info@thefocusfoundation.org

Internet: http://www.thefocusfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  6/13/2011

Copyright  1986, 1990, 1993, 1998, 1999, 2007, 2008, 2011 National Organization for Rare Disorders, Inc.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.