4.2 Review

The genetic background of acromegaly

Journal

PITUITARY
Volume 20, Issue 1, Pages 10-21

Publisher

SPRINGER
DOI: 10.1007/s11102-017-0789-7

Keywords

Acromegaly; Genetic basis; Familial disease; AIP

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Acromegaly is caused by a somatotropinoma in the vast majority of the cases. These are monoclonal tumors that can occur sporadically or rarely in a familial setting. In the last few years, novel familial syndromes have been described and recent studies explored the landscape of somatic mutations in sporadic somatotropinomas. This short review concentrates on the current knowledge of the genetic basis of both familial and sporadic acromegaly.

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