Friday, December 5, 2014

Researchers led by Greek Dr. Constantine Stratakis have honed in on the possible genetic cause of a rare condition called gigantism that causes excessive growth in children. The researchers believe the findings could lead to new treatments for gigantism.

It might even help improve understanding about the opposite condition, undergrowth, in children, which is currently treated by giving patients the growth hormone. The new study found that duplication of a short stretch of the X chromosome is associated with the rare disorder, and that a single gene within that region has a major impact on how much children grow.

The study was led by Dr. Constantine Stratakis, director of the division of intramural research at NICHD. The research began with a family who came to the the U.S. National Institutes of Health for treatment for gigantism in the mid-1990s. In that family, the mother and two of her sons all had the condition.

"Finding the gene responsible for childhood overgrowth would be very helpful, but the much wider question is what regulates growth" said Constantine Stratakis, M.D., D.Sc., lead author of the new paper and the scientific director of the Division of Intramural Research at NICHD.