| H01618 | |
| H番号 | H01618 |
| 名称 | 下垂体性巨人症 |
| 概要 | Pituitary gigantism is very rare conditions resulting from excessive secretion of growth hormone (GH). Most cases are due to benign pituitary adenomas. Nonadenomatous GH excess is exceptional but occasionally occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased growth velocity with tall stature, enlargement of the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes gigantism and acromegaly. Therapeutic modalities for the treatment of pituitary gigantism include surgery, medication and radiation. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | GPR101 (duplication) [HSA:83550] [KO:K08423] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ブロモクリプチンメシル酸塩 [DR:D00780] オクトレオチド酢酸塩 [DR:D02250] ランレオチド酢酸塩 [DR:D04666] パシレオチドパモ酸塩 [DR:D10566] |
| コメント | See also H00247 Multiple endocrine neoplasia syndrome (MEN), H01102 Pituitary adenomas, and H01483 Acromegaly. |
| リンク | ICD-11: 5A60.0 ICD-10: E22.0 MeSH: D005877 OMIM: 300943 |
| 文献 | PMID:21976722 著者 Glasker S, Vortmeyer AO, Lafferty AR, Hofman PL, Li J, Weil RJ, Zhuang Z, Oldfield EH タイトル Hereditary pituitary hyperplasia with infantile gigantism. 雑誌 J Clin Endocrinol Metab 96:E2078-87 (2011) DOI:10.1210/jc.2011-1401 PMID:26845047 著者 Hannema SE, Savendahl L タイトル The Evaluation and Management of Tall Stature. 雑誌 Horm Res Paediatr 85:347-52 (2016) DOI:10.1159/000443685 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:25905378 著者 Eugster E タイトル Gigantism 雑誌 Endotext (2000) |