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Klinefelter's Syndrome

more about Klinefelter's Syndrome


  • Males have one X-chromosome and one Y-chromosome.  Females have two X-chromosomes.  In Klinefelter's syndrome, a male gets an extra X-chromosome and therefore has two X-chromosomes and one Y-chromosome.  There are some individuals who have a mosaic genetic pattern -- part XXY and part XY -- that determines to what extent the individual is affected.

  • Few symptoms and signs in childhood
  • Long arms and legs
  • Tall, slim, and underweight
  • Enlarged male breasts
  • Small testicles
  • Mental retardation
  • Psychosocial, learning, or school adjustment problems
  • Anxiety, immaturity, excessive shyness, or aggressiveness, such as fire-setting behavior
  • Delayed pubertal development
  • Sparse facial hair
  • Infertility

  • Genetic testing
  • Slightly low level of testosterone
  • Elevated gonadotropins after mid-puberty
  • Testicular biopsy -- abnormal findings

  • Testosterone is often supplemented (though this will not reverse infertility).
  • Cosmetic surgical removal of extra breast tissue may be considered.

  • There is increased risk of breast cancer (though still much less than females), lung disease, Leukemia, and varicose veins.
  • Mild increase in the risk of mental retardation and diabetes




more about Klinefelter's Syndrome


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