| H01864 | |
| H number | H01864 |
| Name | Excessive secretion of growth hormone |
| Description | Excessive secretion of growth hormone (GH) causes acromegaly [DS:H01483] and pituitary gigantism [DS:H01618]. They have the same pathogenetic mechanism, but differ regarding the age of onset. Gigantism occurs much earlier in life when the skeleton still has the potential to grow, a developmental phase now known as prepubertal. Although most cases occur as a result of a sporadic GH-secreting pituitary adenoma, they can occur in a familial setting. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | AIP [HSA:9049] [KO:K17767] GPR101 [HSA:83550] [KO:K08423] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A60.0 ICD-10: E22.0 MeSH: D000172 D005877 OMIM: 102200 300943 |
| Reference | PMID:22584702 AUTHORS Herder WW TITLE Familial gigantism. JOURNAL Clinics (Sao Paulo) 67 Suppl 1:29-32 (2012) DOI:10.6061/clinics/2012(Sup01)06 PMID:25470569 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) DOI:10.1056/NEJMoa1408028 PMID:16728643 AUTHORS Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA TITLE Pituitary adenoma predisposition caused by germline mutations in the AIP gene. JOURNAL Science 312:1228-30 (2006) DOI:10.1126/science.1126100 |