卡门氏症候群

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卡尔曼综合征
GNRH1 structure.png
GNRH1结构示意图
(from PDB 1YY1)
分类和外部资源
醫學專科 內分泌學
ICD-10 E23.0
ICD-9-CM 253.4
OMIM 308700 147950 244200 138850 607002 146110 136350 615271 615270 614880 1527600 162330 164160 608137 608892 300473 603286 613301 604808 603725 606807 602748607984
DiseasesDB 7091
eMedicine med/1216 med/1342
MeSH D017436

卡尔曼综合征是一种罕见的遗传性疾病,其特点患者是无法进入青春期或青春期发育不完全。该疾病也伴随着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发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]

参考文献[编辑]

  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. 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. ISSN 0896-6273. PMID 12062015. 
  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]. 
  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. ISSN 0169-328X. PMID 2687610. 
  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. PMC 4088923. PMID 25071724. doi:10.3389/fendo.2014.00109. 
  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. ISSN 1759-5037. PMID 26194704. doi:10.1038/nrendo.2015.112. 
  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. ISSN 0021-972X. PMID 9024272. doi:10.1210/jcem.82.2.3758.