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Klinefelter Syndrome

(47 XXY Syndrome; KS)
  • 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

    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

    Most men with KS do not have symptoms. When KS does develop, it usually goes undetected until puberty or sometimes much later.
    Babies may have lower birthweight, or slower muscle and motor development.
    Children or adults may have:
    • Social and learning disabilities
    • Enlarged breasts
    • Inability to produce sperm
    • Small firm testes
    • Small penis
    • Abnormal body proportions, such as long legs or short trunk
    • Tallness with extra long arms and legs
    • 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 facial and body hair
    • Diminished sex drive or 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. Diagnosis of KS may be found incidentally. For example:
  • Treatment

    Treatment of KS includes:
    Testosterone
    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
    Speech and Language Therapy
    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

    There are no current guidelines to prevent KS. If you are pregnant, talk to your doctor about prenatal care and screening tests.
  • RESOURCES

    Klinefelter Syndrome and Associates http://www.genetic.org

    National Institute of Child Health and 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 March 17, 2015. Accessed June 18, 2015.

    Tell me about 47, XXY. Klinefelter Syndrome and Associates website. Available at: http://www.genetic.org/Knowledge/WhatAreXYChromosomeVariations/Tellmeabout47,XXY.aspx. Accessed June 18, 2015.

    Klinefelter syndrome (KS): Overview. National Institute of Child Health and Human Development website. Available at: http://www.nichd.nih.gov/health/topics/klinefelter/Pages/default.aspx. Updated November 15, 2013. Accessed June 18, 2015.

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