Posted October 30, 2008on:
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.
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.
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:
Author: Harold Chen, MD, MS, FAAP, FACMG, Chief, Professor, Department of Pediatrics, Section of Perinatal Genetics, Louisiana State University Medical Center
Or is he XXY? There IS a difference!
A Parent’s View
Understanding Klinefelter Syndrome
A Guide for XXY Males and Their Families
Office of Research Reporting, NICHD
NIH Pub. No. 93-3202
- What is Klinefelter Syndrome?
Chromosomes and Klinefelter Syndrome
What to Tell Families, Friends, and XXY boys
Detecting Language Problems Early
Guidelines for Detecting Language Problems
The XXY Boy in the Classroom
Help Under the Law
Med Line Plus
XXY Information KLINEFELTER SYNDROME
KLINEFELTER’S SYNDROME ASSOCIATION UK
- Klinefelter Syndrome & Associates, Inc.
- PO Box 119
- Roseville, CA 95678-0119
- Phone: 916.773.1449
- Fax: 916.773.1449
- E-mail: email@example.com
- 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
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
- Australian Klinefelter Support Group
- 4 Victoria Rd
- Acquire Fields NEW 02564 AUSTRALIA
- Victoria Support Group
- 41 Jesmond Rd
Cordon, Victoria 03136 AUSTRALIA
Klinefelter Syndrome Support Group
- P.O.Box 3
Glendenning Mail Center NEW 2761 AUSTRALIA
- Canada Klinefelter Support Group
- Apt. 3, 2867 Young St.
Toronto, ON. Canada M4N 2J5
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)]
Sweden and Denmark
- Swedish Klinefelter Association (Svenska XXY& Klinefelterföreningen)
Klinefelter Syndrome Booklets, Danish version or English version, The Turner Center
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, eMedicine
Klinefelter Syndrome, Ohio Support Network
Understanding Klinefelter Syndrome: A Guide for XXY Males and their Families, R Boca, INCHED, NIHAU Pub. No. 93-3202, August 1993