The genetic background of acromegaly.
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.
Neuroendocrinology Research Center/Endocrine Section and Medical School - Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.|Neuroendocrine Section - Instituto Estadual do Cérebro Paulo Niemeyer, Secretaria Estadual de Saúde do Rio de Janeiro, Rio de Janeiro, Brazil.
Mônica R
MR
Gadelha
Neuroendocrinology Research Center/Endocrine Section and Medical School - Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.|Neuroendocrine Section - Instituto Estadual do Cérebro Paulo Niemeyer, Secretaria Estadual de Saúde do Rio de Janeiro, Rio de Janeiro, Brazil.|Endocrine Unit, Hospital Federal de Bonsucesso, Rio de Janeiro, Brazil.
Leandro
L
Kasuki
Centre for Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London, EC1A 6BQ, UK. m.korbonits@qmul.ac.uk.
Márta
M
Korbonits
D000172:Acromegaly / Q000209:etiology / Q000235:genetics*; D005260:Female; D000068617:Genetic Background; D049912:Growth Hormone-Secreting Pituitary Adenoma / Q000150:complications / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics
AIP; Acromegaly; Familial disease; Genetic basis