| H01864 | |
| H番号 | H01864 |
| 名称 | 下垂体性成長ホルモン分泌亢進症 |
| 概要 | 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. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | AIP [HSA:9049] [KO:K17767] GPR101 [HSA:83550] [KO:K08423] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A60.0 ICD-10: E22.0 MeSH: D000172 D005877 OMIM: 102200 300943 |
| 文献 | PMID:22584702 著者 Herder WW タイトル Familial gigantism. 雑誌 Clinics (Sao Paulo) 67 Suppl 1:29-32 (2012) DOI:10.6061/clinics/2012(Sup01)06 PMID:25470569 著者 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 タイトル Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. 雑誌 N Engl J Med 371:2363-74 (2014) DOI:10.1056/NEJMoa1408028 PMID:16728643 著者 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 タイトル Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 雑誌 Science 312:1228-30 (2006) DOI:10.1126/science.1126100 |