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| 題 名 | Short Stature in Patients with 45,X/46,XY Mosaicism: Report of Three Cases=45,X/46,XY鑲嵌型矮小病童:三病例報告 |
|---|---|
| 作 者 | 李智芳; 蘇本華; 陳家玉; 陳素珍; 楊凱琦; 林麗玲; | 書刊名 | 臺灣兒科醫學會雜誌 |
| 卷 期 | 47:6 民95.11-12 |
| 頁 次 | 頁312-316+332 |
| 分類號 | 417.509 |
| 關鍵詞 | 45,X/46,XY核型; 身材矮小; 生長激素; 透納氏症; 45,X/46,XY karyotype; Short stature; Growth hormone; Turner syndrome; |
| 語 文 | 英文(English) |
| 中文摘要 | 染色體分析常被運用在診斷身材矮小的女性患者是否為透納氏症時使用。本文報告三位身材矮小之男性患者,其身高皆小於第三百分位,求診時的年齡分別為10、13、18歲,在確診染色體為45, X/46, XY鑲嵌核型後皆給予生長激素治療,結果發現早期治療效果較好,建議明顯矮小的男性如有懷疑也應考慮染色體分析,以便早期診斷。 |
| 英文摘要 | Chromosomal analysis is routinely considered in all girls-but not boys-of short stature to screen for Turner syndrome. We report three patients of short stature (body height < 3rd percentile) with 45, X/46, XY mosaicism karyotype. They were brought to our outpatient department at the ages of 10, 13, and 18 years, respectively. Two of them had some stigmata of Turner syndrome. Two were treated with growth hormone. In the first patient, body height increased by 20 cm in 3 years 7 months. The second case increased by 6.5 cm in 8 months. We suggest that boys with unexplained short stature should be screened with chromosomal analysis, and growth hormone treatment should be offered to boys of short stature and 45, X/46, XY mosaicism before the epiphyseal plates close. |
本系統中英文摘要資訊取自各篇刊載內容。