Medical Definition of Klinefelter syndrome

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Klinefelter syndrome: A condition in males who have XXY sex chromosomes, rather than the usual XY. Some also have additional X chromosomes, or more than one Y chromosome. XXY is one of the most common chromosomal abnormalities. It occurs in 1 in 500 male births. The signs of Klinefelter syndrome include small testes, insufficient production of testosterone, and infertility. XXY males are more likely than other males to show breast enlargement, lack of facial and body hair, and a rounded body type, and they are more likely than other males to be overweight and be taller than their fathers and brothers. Klinefelter boys tend to have learning and/or behavioral 'problems.

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Reviewed on 12/12/2018

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