Klinefelter Syndrome

This condition was first identified by Dr. Harry Klinefelter at the Massachusetts General Hospital in Boston. A report published he and his coworkers reported case studies on nine men who had enlarged breasts, sparse facial and body hair and an inability to produce sperm.

Now more appropriately referred to as XXY Male of XXY Male Syndrome, males born with this condition have an extra sex chromosome XXY instead of the usual genotype XY. It is associated with a 47XXY karyotype and statistically occurs in 1/500 newborns.

Clinical features

Klinefelter is occasionally associated with lymphatic blockage or fetal hydrops and thus is included in a discussion of developmental disorders of the lymphatics.

Original symptoms included tall stature, long upper extremities, poor pubertal development, microorchidism, enlarged breasts, sparce facial and body hair, small testes and subsequent sterility.

Recent studies have expanded the original symptoms to include infertility, incomplete masculinization; feminine, or pear shaped, body and body hair distribution, decreased libido, osteoporosis, taurodontism, venous disease (which may include mitral valve prolapse, varicose veins and venous ulcers), learning and emotional disorders, autoimmune disorders, low energy and self esteem, communication difficulties, especially with expressive language, frustration-based outbursts, motor skills issue and developmental delays. Also, there is a 20 times increased risk for XXY males to develop breast cancer than non XXY males.

Treatment

For proper care and treatment early diagnosis is important. The treatment includes hormone therapy such as testosterone replacement. Other treatment aspects should include the psychosocial and emotional problems, needed treatment for physiological side affects and later on even genetic counseling.

FOR FURTHER INFORMATION AND RESOURCES:

Klinefelter Syndrome?Or is he XXY? There IS a difference!A Parent's View

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What is Klinefelter Syndrome?

Chromosomes and Klinefelter Syndrome

Causes

Diagnosis

What to Tell Families, Friends, and XXY boys

Childhood

Detecting Language Problems Early

Guidelines for Detecting Language Problems

The XXY Boy in the Classroom

Help Under the Law

Teaching Tips

Adolescence

Testosterone Treatment

Chromosomal Variations

Sexuality

Infertility

Health Considerations

AdulthoodResources

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Klinefelter's SyndromeMed Line Plus

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Klinefelter Syndrome & Associates, Inc.
PO Box 119
Roseville, CA 95678-0119
Phone: 916.773.1449
Fax: 916.773.1449
E-mail: help@genetic.org

Web site: http://www.genetic.org/ks/ (Japenese version)
[Note: group name may change to X & Y Family Genetic Network and include XXX, and XXY and the multiple sex chromosome variants]

- Resources for families

- Introductory video about XXY, by mother whose son has Klinefelter Syndrome
- The Even Exchange, Newsletter

American Association for Klinefelter Syndrome Information and Support (AAKSIS)

Klinefelter Syndrome Support Group Home Page, numerous links to other organizations and resources, created by an adult with Klinefelter Syndrome, regional groups, varients, international groups

International Groups:

Australia

Australian Klinefelter Support Group
4 Victoria Rd
Acquire Fields NEW 02564 AUSTRALIA
02-605-2837

Victoria Support Group

41 Jesmond RdCordon, Victoria 03136 AUSTRALIA03-9723-6148
Klinefelter Syndrome Support Group
P.O.Box 3Glendenning Mail Center NEW 2761 AUSTRALIA02-9628-4142

Canada

Canada Klinefelter Support Group

Apt. 3, 2867 Young St.Toronto, ON. Canada M4N 2J5416. 481.3171

England (United Kingdom)

Klinefelter's Syndrome Association
56 Little Yeldham Road
Little Yeldham, Halstead, Essex CO9 4QT

Klinefelter Organisation [formerly the Klinefelter's Syndrome Club UK (KSCUK)]

Belgium

Belgische vereniging voor het syndroom van Klinefelter

Sweden and Denmark

Swedish Klinefelter Association (Svenska XXY& Klinefelterföreningen)
Klinefelter Syndrome Booklets, Danish version or English version, The Turner Center

Norwegian Klinefelter Site

Other information:

Chromosomal Problems Discovered through Prenatal Diagnosis: Klinefelter Syndrome, (.pdf) PacNorGG spanish version

Diagnosis and Treatment of Klinefelter Syndrome, CM SMYTH, University of Washington, Hospital Practice, 1999

Guide for XXY Males and Their Families, R Bock, National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH)
Klinefelter Syndrome (47,XXY), English & Spanish (.pdf files), Pacific Northwest Regional

Genetics Group (PacNoRGG)
Klinefelter Syndrome (XXY): A Parent's View

Klinefelter Syndrome, eMedicine

Klinefelter Syndrome, Ohio Support Network

Misleading information in early Klinefelter studies

Human Growth Foundation

Teaching tips for males with XXY

The Turner Center Center for Information,Counseling, and Research on chromosome anomalies (includes Klinefelter Syndrome: An Orientation and Klinefelter Syndrome: Brief Information)

Understanding Klinefelter Syndrome: A Guide for XXY Males and their Families, R Boca, INCHED, NIHAU Pub. No. 93-3202, August 1993

XXY List Members

What is XXY? Hambley, (french version)

XYY individual's sites

Klinefelter’s Syndrome pamphlet and The X-tra Special Boy and For Boys Only, A Supplement pamphlets, by D Plumridge,C Brackets, and S LaFranchi, $3.50 for the main pamphlet and $1.25 for the supplement. Attn: CDRC Publications, Oregon Health Sciences University, CDRC, P.O. Box 574, Portland, Oregon 97207, Phone: (503) 279-8342 - checks to: Child Development & Rehabilitation Center.

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