卡门氏症候群 

卡尔曼综合征
GNRH1结构示意图
(from PDB 1YY1)
症状嗅覺喪失性腺功能低下症骨質疏鬆症不孕
类型hypogonadotropic hypogonadism[*]疾病
分类和外部资源
醫學專科內分泌學
OMIM308700
DiseasesDB7091
eMedicine255152、​122824
Orphanet478

卡尔曼综合征(英語:Kallmann syndrome)是一种罕见的遺傳性疾病,其特点是患者无法进入青春期或青春期发育不完全。该疾病也伴随嗅觉丧失或嗅觉减退。此种疾病男女皆可发病,但多见于男性。患者若不进行治疗大多会出现不育的情况。[1][2][3]

卡尔曼综合征的产生是由于在胚胎發育过程中,促性腺激素释放激素释放神经元无法迁移到正确的位置,导致下丘脑无法在适当的时间释放促性腺激素释放激素。[4][5]

卡尔曼综合征是性腺机能减退的一种形式。在出现性腺机能减退且伴随嗅觉丧失的人群中约有50%被列为卡尔曼综合征。除去嗅觉丧失的症状,针对卡尔曼综合征和性腺机能减退的诊疗并没有什么区别。[6][7]

此病由德裔美籍精神科醫師法蘭茲·約瑟夫·卡爾曼(Franz Josef Kallmann)於1944年首次描述,因此以他的姓氏命名。

  1. ^ Pitteloud, Nelly; Quinton, Richard; Pearce, Simon; Raivio, Taneli; Acierno, James; Dwyer, Andrew; Plummer, Lacey; Hughes, Virginia; Seminara, Stephanie. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. Journal of Clinical Investigation. 2007-02-01, 117 (2): 457–463. ISSN 0021-9738. PMC 1765517可免费查阅. PMID 17235395. doi:10.1172/JCI29884. 
  2. ^ MacColl, Gavin; Bouloux, Pierre; Quinton, Richard. Kallmann syndrome: adhesion, afferents, and anosmia. Neuron. 2002-05-30, 34 (5): 675–678 [2016-08-08]. ISSN 0896-6273. PMID 12062015. (原始内容存档于2018-07-06). 
  3. ^ 衛生福利部國民健康署遺傳疾病諮詢服務窗口. gene.hpa.gov.tw. [2016-08-08]. (原始内容存档于2016-09-19). 
  4. ^ Schwanzel-Fukuda, M.; Bick, D.; Pfaff, D. W. Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. Brain Research. Molecular Brain Research. 1989-12-01, 6 (4): 311–326 [2016-08-08]. ISSN 0169-328X. PMID 2687610. (原始内容存档于2019-06-07). 
  5. ^ Valdes-Socin, Hernan; Rubio Almanza, Matilde; Tomé Fernández-Ladreda, Mariana; Debray, François Guillaume; Bours, Vincent; Beckers, Albert. Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. Neuroendocrine Science. 2014-01-01, 5: 109 [2016-08-08]. PMC 4088923可免费查阅. PMID 25071724. doi:10.3389/fendo.2014.00109. (原始内容存档于2016-04-05). 
  6. ^ Boehm, Ulrich; Bouloux, Pierre-Marc; Dattani, Mehul T.; de Roux, Nicolas; Dodé, Catherine; Dunkel, Leo; Dwyer, Andrew A.; Giacobini, Paolo; Hardelin, Jean-Pierre. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment. Nature Reviews. Endocrinology. 2015-09-01, 11 (9): 547–564 [2016-08-08]. ISSN 1759-5037. PMID 26194704. doi:10.1038/nrendo.2015.112. (原始内容存档于2019-06-04). 
  7. ^ Guo, C. Y.; Jones, T. H.; Eastell, R. Treatment of isolated hypogonadotropic hypogonadism effect on bone mineral density and bone turnover. The Journal of Clinical Endocrinology and Metabolism. 1997-02-01, 82 (2): 658–665 [2016-08-08]. ISSN 0021-972X. PMID 9024272. doi:10.1210/jcem.82.2.3758. (原始内容存档于2019-06-04). 



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