特纳综合征临床诊疗管理的现状思考

doi:10.7499/j.issn.1008-8830.2407176

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摘要特纳综合征（Turner syndrome, TS）的临床诊断存在延迟，尤其对于嵌合核型患者，诊断延迟将阻碍与年龄相适应的相关治疗，导致不良的健康结局。因此，有必要基于临床现状探索早期诊断和治疗方案的改善措施。此外，随着研究深入，TS的临床诊治重点逐渐扩展至心血管、生育力、过渡期等多方面，以提高患者的预后和生存质量。该文探讨了TS诊疗的临床现状和管理要点，旨在为改善TS诊疗管理提供思考。

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	顾威
	赵雪

关键词 ：特纳综合征, 重组人生长激素, 矮身材, 心血管疾病, 生育力, 儿童

Abstract：There is a delay in the clinical diagnosis of Turner syndrome (TS), particularly for patients with mosaic karyotypes. This diagnostic delay can hinder age-appropriate treatments and lead to adverse health outcomes. Therefore, it is necessary to explore improvement measures for early diagnosis and treatment plans based on the current clinical situation. Furthermore, as research progresses, the focus of clinical diagnosis and treatment of TS is gradually expanding to multiple aspects, including cardiovascular health, fertility, and transitional care, in order to improve the prognosis and quality of life of the patients. This paper discusses the current clinical status and management key points of TS diagnosis and treatment, aiming to provide insights for improving the management of TS.

Key words： Turner syndrome Recombinant human growth hormone Short stature Cardiovascular disease Fertility Child

收稿日期: 2024-07-31

通讯作者: 顾威，女，硕士，主任医师。Email：guwei154@163.com。 E-mail: guwei154@163.com

作者简介: 顾威，女，硕士，主任医师。Email：guwei154@163.com；

引用本文:

顾威,赵雪. 特纳综合征临床诊疗管理的现状思考[J]. 中国当代儿科杂志, 2024, 26(11): 1135-1140.

GU Wei,ZHAO Xue. Reflections on the clinical diagnosis and management of Turner syndrome[J]. CJCP, 2024, 26(11): 1135-1140.

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