查詢結果分析
來源資料
頁籤選單縮合
題 名 | Kallmann氏症候群--病例報告=Kallmann's Syndrome--Report of Two Cases |
---|---|
作 者 | 張凱明; 江榮山; 許振益; | 書刊名 | 中華民國耳鼻喉科醫學雜誌 |
卷 期 | 34:2 民88.03-04 |
頁 次 | 頁144-147 |
分類號 | 416.8 |
關鍵詞 | Kallmann氏症候群; Kallmann's syndrome; |
語 文 | 中文(Chinese) |
中文摘要 | Kallmann 氏症候群( Kallmann's syndrome )是一種先天性遺傳疾病,主要是 因 X 染色體不正常所導致。臨床上的表現以嗅覺不良,性徵發育不明顯為主。 有些人另會 合併有唇�Z裂,聽力不正常等耳鼻喉科學之症狀。病人大都求助於新陳代謝科門診,很少因 為嗅覺的問題來耳鼻喉科就診,因此耳鼻喉科醫師對此種疾病並不熟悉。本科於 1997 年 9 月間經歷 2 例男性病例,皆來自新陳代謝科的轉介來檢查嗅覺功能。 在嗅覺的試驗當中, 我們利用苯基乙醇( phenyl ethyl alcohol, PEA )嗅覺閾值測試法, 檢查其嗅覺功能, 其閾值均大於 10 �笐薄C 同時並為病人安排磁振攝影評估嗅葉發育的情況,發現此 2 病患 的嗅葉部發育不全。由於此 Kallmann 氏症候群在中耳醫誌尚未被報告過,特提出報告。 |
英文摘要 | Kallmann's syndrome is a genetic disorder with congenital anosmia and primary eunchoidism which is secondary to hypogonadotropic hypogonadism. It was recently recognized to originate pathogenetically from the short arm of the X chromosome. Patients with Kallmann's syndrome usually present with problems with the sense of smell, eunuchoidal habitus, gynecomastia and delayed puberty. These patients are often neglected by otorhinolaryngologists. We encountered two patients with Kallmann's syndrome in September 1997. Both were referred to us by endocrinologists for smell tests. The phenyl ethyl alcohol olfactory threshold test was used to evaluate their smell function. In both patients, the thresholds were above 10 �笐� which is the upper normal limit. The magnetic resonance imaging of both patients showed nondevelopment of the olfactory lobes. To date, congenital anosmia is resistant to treatments. |
本系統中英文摘要資訊取自各篇刊載內容。