卡門氏症候群
 |
| 卡門氏症候群 | |
|---|---|
 | |
| GNRH1結構示意圖 (from PDB 1YY1) | |
| 症狀 | 嗅覺喪失、性腺功能低下症、骨質疏鬆症、不孕 |
| 類型 | hypogonadotropic hypogonadism[*]、疾病、intersex variation[*] |
| 分類和外部資源 | |
| 醫學專科 | 內分泌學 |
| OMIM | 308700 |
| DiseasesDB | 7091 |
| eMedicine | 255152、122824 |
| Orphanet | 478 |
卡門氏症候群（英語：Kallmann syndrome）是一種罕見的遺傳性疾病，其特點是患者無法進入青春期或青春期發育不完全。該疾病也伴隨嗅覺喪失或嗅覺減退。此種疾病男女皆可發病，但多見於男性。患者若不進行治療大多會出現不育的情況。[1][2][3]
卡門氏症候群的產生是由於在胚胎發育過程中，促性腺激素釋放激素釋放神經元無法遷移到正確的位置，導致下視丘無法在適當的時間釋放促性腺激素釋放激素。[4][5]
卡門氏症候群是性腺機能減退的一種形式。在出現性腺機能減退且伴隨嗅覺喪失的人群中約有50％被列為卡門氏症候群。除去嗅覺喪失的症狀，針對卡門氏症候群和性腺機能減退的診療並沒有什麼區別。[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。
參考文獻
- ^ 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.
- ^ 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. （原始內容存檔於2018-07-06）.
- ^ 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]. （原始內容存檔於2016-09-19）.
- ^ 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. （原始內容存檔於2019-06-07）.
- ^ 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 . PMID 25071724. doi:10.3389/fendo.2014.00109. （原始內容存檔於2016-04-05）.
- ^ 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. （原始內容存檔於2019-06-04）.
- ^ 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. （原始內容存檔於2019-06-04）.
