Definition of "Klinefelter syndrome"

Last modified: 15 hours



Klinefelter syndrome (aka 47,XXY) are Sx that result from 2+ X chromosomes in males.

Patient information

What is Klinefelter syndrome?
It's where a bloke has 2 or more X chromosomes. But they still have the normal Y chromosome, so instead of 46 chromosomes, they have 47.

Wait. How many X or Y chromosomes does a bloke normally have?
Blokes have an X and Y, you can remember with the mnemonic that blokes love spreading apart their legs when sitting down, like a Y; and ladies love to cross their legs so have 2 X's.

Sx
  • The primary features is sterility
  • Often Sx may be subtle and many people do not realize they are affected
  • Sometimes, Sx are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, smaller genitals, gynecomastia (breast growth), and less interest in sex
  • Often it is only at puberty that these Sx are noticed
  • Intelligence is usually normal, however, reading difficulties and problems with speech are more common
  • Sx are typically more severe if 3+ X chromosomes are present

Patient information

What happens when a bloke has an extra ladies' X chromosome? Are they more lady like?
They're actually unable to have kids, so it's quite sad. People may not even know they have a problem. They might have weaker muscles, be taller, more klutzy, smaller genitals, less body hair, breasts, and be less interested in sex. So in a way, with the exception of height, you're right. You only really start ot notice these things during puberty too.

What if a bloke has even more than 2 X chromosomes?
Same stuff, but just more severe.

Cause
  • Klinefelter syndrome usually occurs randomly
  • An older mother might increase the risk slightly
  • The condition is not inherited from one’s parents
Pathophysiology
  • The underlying mechanism involves at least 1 extra X chromosome in addition to a Y chromosome, such that there is a total of 47+ chromosomes rather than usual 46
Ix
  • It is Dx by the genetic test known as a karyotype

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Definition of Klinefelter syndrome | Autoprac


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