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Genetics of Kallmann Syndrome

February 10, 2011

Link to a recent paper mentioned in an earlier blog. This is the full paper.

http://www.pubmedcentral.nih.gov/articlerender.fcgi?doi=10.1172/JCI29884

This paper represents recent work from researchers / doctors from the UK and USA about the inheritance of Kallmann syndrome and Hypogonadotrophic Hypogonadism.

In the past inheritance was thought due to be a defect in a single gene. This may now not be the case. It appears that the cause may be a combination of gene defects. To date there have been 7 different genes identified that lead to Kallmann syndrome or HH.

While this may not have an effect on the treatment of Kallmann syndrome at the moment but it might lead to a better chance of earlier diagnosis in the future.

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