|Description||Acromegaly (ACM) is a disorder characterized by increased circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with persistently elevated GH and IGF-I levels have an increased risk of multiple comorbidities, including left ventricular dysfunction, obstructive sleep apnea, arthritis, impaired glucose tolerance, and colonic polyps. Most cases of ACM occur as a result of a sporadic GH-secreting pituitary adenoma (PA). However, ACM can occur in a familial setting, either associated with other endocrine abnormalities or as an isolated disorder. Somatic activating mutations in the GNAS gene, which encodes for the Gs-alpha subunit of G-proteins, are found in up to 40% of sporadic GH-secreting PA. Familial ACM can occur in the context of rare inherited syndromes such as familial isolated pituitary adenoma (FIPA), which is caused in 15-20% of cases by aryl hydrocarbon receptor interacting protein (AIP) gene germline mutations. Moreover, a recurrent mutation was found in GPR101 in some patients with non-familial ACM.|
|Network||ELEMENT N00912 Mutation-activated GNAS to GHRHR-PKA-GH signaling pathway|
|Gene||AIP [HSA:9049] [KO:K17767]
GNAS [HSA:2778] [KO:K04632]
GPR101 [HSA:83550] [KO:K08423]
|Drug||Bromocriptine mesylate [DR:D00780]
Octreotide acetate [DR:D06495]
Lanreotide acetate [DR:D04666]
Pasireotide pamoate [DR:D10566]
|Other DBs||ICD-11: 5A60.0
OMIM: 300943 102200
|Reference||PMID:26136383 (description, gene, drug)
AUTHORS Capatina C, Wass JA
TITLE 60 YEARS OF NEUROENDOCRINOLOGY: Acromegaly.
JOURNAL J Endocrinol 226:T141-60 (2015)
PMID:26815903 (descroiption, gene)
AUTHORS Ferrau F, Romeo PD, Puglisi S, Ragonese M, Torre ML, Scaroni C, Occhi G, De Menis E, Arnaldi G, Trimarchi F, Cannavo S
TITLE Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
JOURNAL Endocrine 54:762-767 (2016)
AUTHORS Bhayana S, Booth GL, Asa SL, Kovacs K, Ezzat S
TITLE The implication of somatotroph adenoma phenotype to somatostatin analog responsiveness in acromegaly.
JOURNAL J Clin Endocrinol Metab 90:6290-5 (2005)
AUTHORS Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenicky P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA
TITLE Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
JOURNAL N Engl J Med 371:2363-74 (2014)
AUTHORS Biermasz N
TITLE Pituitary gland: New consensus in acromegaly: criteria for cure and control.
JOURNAL Nat Rev Endocrinol 6:480-1 (2010)
AUTHORS Brabant G
TITLE Insulin-like growth factor-I: marker for diagnosis of acromegaly and monitoring the efficacy of treatment.
JOURNAL Eur J Endocrinol 148 Suppl 2:S15-20 (2003)
AUTHORS Scacchi M, Cavagnini F
JOURNAL Pituitary 9:297-303 (2006)
AUTHORS Papadakis MA and McPhee SJ |(ed)
TITLE Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
JOURNAL McGraw Hill Education