KEGG   DISEASE: 家族性男性思春期早発症
エントリ  
H02019                                                             
名称    
家族性男性思春期早発症;
家族性精巣中毒症;
ゴナドトロピン非依存性思春期早発症
  上位グループ
思春期早発症 [DS:H00937]
概要    
Familial male-limited precocious puberty, also known as familial testotoxicosis is a form of isosexual precocious puberty in boys in which testosterone levels are elevated independent of changes in luteinizing hormone-releasing hormone and serum luteinizing hormone levels. Activating mutations in the human luteinizing hormone receptor (hLHR) have been described.
カテゴリ  
内分泌系疾患
階層分類  
ヒト疾患 [BR:jp08402]
 内分泌代謝疾患
  性腺疾患
   H02019  家族性男性思春期早発症
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
   性腺ホルモン系の疾患
    5A81  精巣機能障害またはテストステロン関連の疾患
     H02019  家族性男性思春期早発症
関連パスウェイ
hsa04020  Calcium signaling pathway
hsa04917  Prolactin signaling pathway
病因遺伝子 
LHCGR [HSA:3973] [KO:K04248]
リンク   
ICD-11: 5A81.0
ICD-10: E29.0
MeSH: C536961
OMIM: 176410
文献    
PMID:7892197
  著者
Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, Blomberg L, Cutler GB Jr
  タイトル
Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty.
  雑誌
Proc Natl Acad Sci U S A 92:1906-10 (1995)
DOI:10.1073/pnas.92.6.1906
文献    
  著者
Liu G, Duranteau L, Carel JC, Monroe J, Doyle DA, Shenker A
  タイトル
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.
  雑誌
N Engl J Med 341:1731-6 (1999)
DOI:10.1056/NEJM199912023412304
LinkDB    

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