What is it about?
Giants are familiar to all, but outside of the realm of legends, gigantism is a serious illness that is poorly understood. This study is the first to try to understand the causes of pituitary gigantism internationally and demonstrates that in more than half of cases a cause remains to be found.
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Why is it important?
This study is the result of an international collaboration in the rare disease of pituitary gigantism that for the first time collected information on more than 200 patients. The most common cause of pituitary gigantism (about 30%) is a mutation in the AIP gene, followed by the new syndrome X-Linked Acrogigantism (X-LAG), which causes 10% of cases. More than half of cases of this severe condition have no currently known cause. The study reveals the characteristics of different genetic forms of pituitary gigantism, which can help guide clinical testing.
Perspectives
We performed this study as an international collaboration among more than 40 centers worldwide in order to concentrate properly on the problems of patients with pituitary gigantism. While its a familiar disease its rarity made it difficult to truly understand, hence the need to recruit many patients. In the end with 208 patients it was possible to characterize the genetic causes, the clinical presentation and long term effects. We now know that the commonest causes of pituitary gigantism are AIP mutations and X-LAG syndrome. However in more than 50% of cases no known cause exists and this is currently a topic for further research from our group.
Adrian Daly
University of Liège
Read the Original
This page is a summary of: Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients, Endocrine Related Cancer, July 2015, Bioscientifica,
DOI: 10.1530/erc-15-0320.
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