KEGG   DISEASE: 妊性宦官型症候群
エントリ  
H01973                                                             
名称    
妊性宦官型症候群
  上位グループ
低ゴナドトロピン性性腺機能低下症 [DS:H00255]
下垂体前葉機能低下症 [DS:H01700]
男子性腺機能不全症 [DS:H02027]
概要    
Fertile eunuch syndrome is a form of idiopathic hypogonadotropic hypogonadism in males. It is characterized by eunuchoid features associated with normal or low-normal sized testes, presence of active spermatogenesis despite the absence or scarcity of Leydig cells, and androgenic response (clinical or chemical or both) to administered human chorionic gonadotropin. In this disease, the levels of testosterone and follicle-stimulating hormone (FSH) are inadequate to induce spermatogenesis and the development of secondary sexual characteristics. Mutations in the beta subunit of luteinizing hormone gene have been identified from patients of this disease.
カテゴリ  
先天奇形
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
    5A61  下垂体機能低下症またはその他の明示された下垂体の疾患
     H01973  妊性宦官型症候群
パスウェイ 
hsa04912  GnRH signaling pathway
hsa04917  Prolactin signaling pathway
hsa04913  Ovarian steroidogenesis
病因遺伝子 
LHB [HSA:3972] [KO:K08521]
リンク   
ICD-11: 5A61.0
OMIM: 228300
文献    
  著者
MCCULLAGH EP, BECK JC, SCHAFFENBURG CA
  タイトル
A syndrome of eunuchoidism with spermatogenesis, normal urinary FSH and low or normal ICSH: (fertile eunuchs).
  雑誌
J Clin Endocrinol Metab 13:489-509 (1953)
DOI:10.1210/jcem-13-5-489
文献    
  著者
PASQUALINI RQ
  タイトル
Hypoandrogenic syndrome with normal spermatogenesis.
  雑誌
J Clin Endocrinol Metab 13:128-9 (1953)
DOI:10.1210/jcem-13-1-128
文献    
  著者
Ozcan KS, Osmonov D, Altay S, Gungor B, Eren M
  タイトル
Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus.
  雑誌
Tex Heart Inst J 40:204-6 (2013)
文献    
PMID:883676
  著者
Makler A, Glezerman M, Lunenfeld B
  タイトル
The fertile eunuch syndrome. An isolated leydig-cell failure?
  雑誌
Andrologia 9:163-70 (1977)
DOI:10.1111/j.1439-0272.1977.tb01276.x
文献    
  著者
Shiraishi K, Naito K
  タイトル
Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone.
  雑誌
Endocr J 50:733-7 (2003)
DOI:10.1507/endocrj.50.733
文献    
  著者
Valdes-Socin H, Salvi R, Thiry A, Daly AF, Pralong FP, Gaillard R, Beckers A
  タイトル
Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment.
  雑誌
J Clin Endocrinol Metab 94:3-4 (2009)
DOI:10.1210/jc.2008-1584
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