KEGG   DISEASE: 中枢性思春期早発症
エントリ  
H02018                                                             
名称    
中枢性思春期早発症
  上位グループ
思春期早発症 [DS:H00937]
概要    
Central precocious puberty is caused by early maturation of the hypothalamic-pituitary-gonadal axis. Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were described as an excitatory neuroregulator system for the secretion of gonadotropin-releasing hormone (GnRH). Mutations of the KISS1R gene were identified in patients with impaired pubertal development. It has also been reported that central precocious puberty caused by mutations in the imprinted gene MKRN3.
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
     H02018  中枢性思春期早発症
パスウェイ 
hsa04080  Neuroactive ligand-receptor interaction
hsa04929  GnRH secretion
病因遺伝子 
(CPPB1) KISS1R [HSA:84634] [KO:K08374]
(CPPB2) MKRN3 [HSA:7681] [KO:K15687]
治療薬   
ブセレリン酢酸塩 [DR:D01831]
リュープロレリン酢酸塩 [DR:D00989]
リンク   
ICD-11: 5A60.3
ICD-10: E30.1
MeSH: C562787
OMIM: 176400 615346
文献    
PMID:18272894 (CPPB1)
  著者
Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC
  タイトル
A GPR54-activating mutation in a patient with central precocious puberty.
  雑誌
N Engl J Med 358:709-15 (2008)
DOI:10.1056/NEJMoa073443
文献    
PMID:23738509 (CPPB2)
  著者
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB
  タイトル
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
  雑誌
N Engl J Med 368:2467-75 (2013)
DOI:10.1056/NEJMoa1302160
LinkDB    

» English version

DBGET integrated database retrieval system