生殖医学杂志2012，Vol.21Issue(2)：140-145,6.DOI:10.3969/j.issn.1004-3845.2012.02.013
118例中国Turner综合征相关异常的临床分析
Clinical analysis of 118 Chinese patients with Turner syndrome
罗恋梅 1田秦杰 2徐苓1
作者信息
- 1. 中国医学科学院,北京协和医学院,北京协和医院妇产科,北京100730
- 2. 清华大学第一附属医院妇产科,北京100016
- 折叠
摘要
Abstract
Objective: To analyze the heterogeneity of clinical characteristics in Chinese patients with Turner syndrome (TS).Methods: Retrospective analysis of 118 patients diagnosed with Turner syndrome (TS) in Peking Union Medical College Hospital between Jan 1968 and Feb 2009 was performed. Results: One hundred and eighteen patients with TS were karyotyped into 4 groups: 45XO (29 patients, 24. 6%), mosaic cases (11 patients, 9. 3%), patients with structural aberrations of X chromosome (49 patients, 41. 5%) and patients with Y chromosome (29 patients, 24. 5%). The patients' (≥20 years) height was (146. 4 + 6. 9) cm, which was shorter than the normal standard. No significant difference in height was observed among patients with different karyotypes. Thirty-five patients had echocardiography (UCG) examination, and 7 patients (20%) had cardiovascular abnormalities among them. Three of 24 patients (12. 5%) had renal abnormalities under ultrasound. Seventy four patients had thyroid function test, of which 33 (44. 6%) had abnormal results. Sixteen patients (13. 6%) had abnormal hepatic function.Conclusions; A relatively higher percentage of patients with TS had abnormal thyroid and hepatic function, while cardiovascular and kidney abnormalities were also common problems related to TS. It is suggested that the thyroid and hepatic function, cardiovascular risk and renal abnormalities should be examined routinely in patients with TS.关键词
Turner综合征/核型Key words
Turner syndrome (TS) /Karyotype引用本文复制引用
罗恋梅,田秦杰,徐苓..118例中国Turner综合征相关异常的临床分析[J].生殖医学杂志,2012,21(2):140-145,6.
