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Genetics of Kallmann Syndrome

November 1, 2010

http://www.ncl.ac.uk/ihg/research/publication/68929

Unlike some other more common conditions like Turner Syndrome or Klinefelter syndrome the genetic basis of Kallmann syndrome is far from clear.

Presently there are 8 different gene defects that are known to cause one form of Kallmann syndrome or hypogonadotrophic hypogonadism

To make it even more complicated it is now thought that Kallmann syndrome can be caused by two different gene defects working together.

This makes the question of inheritance and gene testing a very difficult area.

Unlike some genetic disorders you can not screen for Kallmann syndrome. You can test for a couple of gene defects but with still over 60% of Kallmann syndrome cases with an unknown genetic origin there is no reliable test available that can help diagnose the condition or calculate the percentage chance of passing it on to future generations.

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