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Klinefelter Syndrome

(47 XXY Syndrome; KS)

En Español (Spanish Version)

Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention

Definition

Klinefelter syndrome (KS) occurs in some men who have more than one X chromosome (XXY).

Klinefelter's Syndrome

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Causes

Males usually inherit a single X chromosome from their mother and a single Y chromosome from their father. Males with KS get at least one extra X chromosome.

Risk Factors

A risk factor is something that increases your chance of KS. Women over age 35 may have a slightly increased chance of having a child with KS. There are no other known risk factors for this disorder.

Symptoms

XXY occurs in approximately 1 out of 580 live male births, but many men with it do not develop KS. When KS does develop, it usually goes undetected until puberty or sometimes much later.

Characteristics may include:

  • For babies: Smaller birth weight and slower muscle and motor development
  • For children and adults:
    • Small firm testes, small penis
    • Abnormal body proportions (long legs, short trunk)
    • Tallness with extra long arms and legs
    • Social and learning disabilities (common)
    • Personality impairment
    • Attention deficit hyperactivity disorder (ADHD)
    • Speech and language problems—Children with KS often learn to speak later than other children do. They may have a difficult time reading and writing.
    • Normal to borderline IQ
    • Lack of ability to produce sperm (common)
    • Lack of facial and body hair
    • Enlarged breasts (common)
    • Diminished sex drive, sexual dysfunction

Men with KS have an increased risk of:

Diagnosis

A test called a karyotype is used to diagnose KS. In the case of KS, there are usually 47 chromosomes rather than the normal 46.

Many men with XXY do not know they have the condition. The diagnosis may be found:

  • When amniocentesis is done
  • In babies— with undescended testes or very small penis
  • In children—when the child is having problems learning
  • In adolescents—when the child has delayed puberty or excessive breast development
  • In adults—when the man has fertility concerns

Treatment

Treatment of KS includes:

The main treatment is testosterone . When boys with KS are 10-12 years old, their hormone levels are checked yearly. If testosterone levels are low, then treatment may be helpful. Men diagnosed may also benefit from taking the hormone. However, testosterone cannot reverse infertility.

The benefits of testosterone include:

  • Increased strength
  • More muscular, male appearance
  • Growth of facial and body hair
  • Better self-esteem
  • Modulation of mood
  • Increased energy
  • Increased ability to concentrate
  • Greater sex drive
  • Improved bone density

This therapy should begin in early childhood to avoid social and school learning problems. Treatment may involve:

  • Speech therapy
  • Special education services
  • Extra support and help with learning from parents and teachers
  • Social skills training and psychological counseling

Prevention

Currently, there are no known ways of preventing KS.

RESOURCES:

Klinefelter Syndrome and Associates

http://www.genetic.org

National Institute of Child Health & Human Development

http://www.nichd.nih.gov

CANADIAN RESOURCES:

Canadian Psychiatric Association

http://www.cpa-apc.org

Canadian Psychological Association

http://www.cpa.ca

References:

Klinefelter syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated February 28, 2013. Accessed October 11, 2011.

Tell me about 47, XXY. Klinefelter Syndrome and Associates website. Available at: http://www.genetic.org/knowledge/support/action/199/#Brief%20Introduction%20to%20Klinefelter%20syndrome. Accessed August 20, 2013.

Klinefelter syndrome: overview. National Institute of Child Health & Human Development website. Available at: http://www.nichd.nih.gov/publications/pubs/klinefelter.cfm. Updated April 3, 2013. Accessed August 20, 2013.

Last reviewed August 2013 by Kari Kassir, MD; Michael Woods, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.


 
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