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.
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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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