KEGG   DISEASE: 下垂体性巨人症
エントリ  
H01618                                                             
名称    
下垂体性巨人症
  上位グループ
下垂体性成長ホルモン分泌亢進症 [DS:H01864]
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   下垂体ホルモン系の疾患
    5A60  下垂体機能亢進症
     H01618  下垂体性巨人症
病因遺伝子 
GPR101 (duplication) [HSA:83550] [KO:K08423]
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
MeSH: D005877
OMIM: 300943
文献    
  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
文献    
  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
文献    
  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
文献    
  著者
Eugster E
  タイトル
Gigantism
  雑誌
Endotext (2000)
LinkDB    

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