頁籤選單縮合
題名 | An Isodicentric X Chromosome with Gonadal Dysgenesis in a Lady without Prominent Somatic Features of Turner's Syndrome. A Case Report= |
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作者 | Yu, Tse-ya; Lin, Huan-sheng; Chen, Pei-lung; Huang, Tien-shang; |
期刊 | Journal of the Formosan Medical Association |
出版日期 | 20150100 |
卷期 | 114:1 2015.01[民104.01] |
頁次 | 頁77-80 |
分類號 | 417.133 |
語文 | eng |
關鍵詞 | Gonadal dysgenesis; Phenotype; Turner's syndrome; |
英文摘要 | Isodicentric X chromosomes in general have phenotypes characteristic of the resultant X deletions. Gonadotropin levels in Turner’s syndrome (TS) girls are high, but have a normal biphasic pattern. Here, we report a 21-year-old lady with primary amenorrhea. Clinical examination revealed a short neck but no other typical stigmata of Turner’s syndrome. The levels of gonadotropin were not raised to post-menopausal levels. A chromosome study showed a 45,X/ 46,X,idic(X)(q22) karyotype. She was diagnosed as having Turner’s syndrome. |
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