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Klinefelter Syndrome

What is Klinefelter Syndrome?

Klinefelter syndrome is the most common cause of male infertility. It is a sex chromosome variation that occurs in 1 in 500 males. Most men do not demonstrate symptoms. Normally, males have one X chromosome in their cells. Males affected with Klinefelter syndrome have at least one extra X chromosome in most of their cells. The extra chromosome impacts their:

  • Bone strength
  • Language development
  • Breast size
  • Learning
  • Energy level
  • Muscle mass
  • Hair growth
  • Social development
  • Height
  • Thought processes
  • Hip girth
  •  

What causes Klinefelter syndrome?

Klinefelter syndrome occurs after the mother’s egg is fertilized. Chromosome pairs are supposed to separate, so that two daughter cells receive one chromosome each. In Klinefelter syndrome, the pair does not disjoin (separate). Both of the chromosomes in the pair go to one daughter cell. The other daughter cell receives none.

This problem happens more frequently in older mothers, and is called meiotic nondisjunction.

As a result of this genetic problem, the Klinefelter syndrome baby develops an abnormal pituitary gland, testicles, and hypothalamus portion of the brain. The boy’s testicles degenerate, so they cannot produce enough sperm in later life.

Healthy tissue is replaced by clear, glassy collagen fi bers, called hyaline. The boy has scar tissue (fi brosis) in his seminiferous tubules, where his sperm form. Feminine breasts develop in late puberty for 50% of Klinefelter syndrome adolescents.

» Learn More about Klinefelter Syndrome.

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