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

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:

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