Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

Posted by & filed under Part 18: HORMONES.

A new pediatric disorder (named X-linked acrogigantism [X-LAG]) caused by an Xq26.3 genomic duplication and presenting with early-onset gigantism due to an excess of growth hormone has been described in the Dec 2014 issue of the New England Journal of Medicine. Of the four genes included in the Xq26.3 interval, GPR101, which encodes a G-protein-coupled receptor, was overexpressed in patients’ pituitary lesions and a recurrent mutation in GPR101 has been found in some adults with acromegaly. When the mutation was transfected into rat GH3 cells, it led to increased release of growth hormone and proliferation of growth hormone-producing cells.

Posted by Nicola Brunetti-Pierri




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