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成年及成年后特纳综合征的管理。

Management of Turner syndrome in adult life and beyond.

作者信息

Castelo-Branco Camil

机构信息

Gynaecologic Endocrinology Unit, Clinic Institute of Gynaecology, Obstetrics and Neonatology - Hospital Clinic, Faculty of Medicine, University of Barcelona, IDIBAPS, Spain.

出版信息

Maturitas. 2014 Dec;79(4):471-5. doi: 10.1016/j.maturitas.2014.08.011. Epub 2014 Sep 26.

Abstract

OBJECTIVE

To describe in practical terms the clinical management in adult life of patients with Turner syndrome.

MATERIAL & METHODS: Systematic review of the literature and practical issues. An evaluation of clinical trials, meta-analysis, case reports and reviews assessing the management of different conditions related to Turner syndrome was done using the following data sources: Medline, PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register, Embase (up to July 2014).

RESULTS

Extracted information is summarized here on karyotype, screening of malformations, malformations debuting in adult life, final height, treatments with growth hormone, cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders and osteoporosis and its treatment.

CONCLUSIONS

This review provides recommendations for the management of adult patients with Turner syndrome and insight into the associated medical complaints. A link between karyotypes and clinical features suggests a novel hypothesis to explain the different phenotypes and clinical abnormalities of these patients.

摘要

目的

切实描述特纳综合征成年患者的临床管理。

材料与方法

对文献及实际问题进行系统综述。利用以下数据来源对评估与特纳综合征相关不同病症管理的临床试验、荟萃分析、病例报告及综述进行评估:医学索引数据库(Medline)、医学期刊数据库(PubMed,1966年至2014年7月)、考克兰对照临床试验注册库、荷兰医学文摘数据库(Embase,截至2014年7月)。

结果

此处总结了关于核型、畸形筛查、成年期出现的畸形、最终身高、生长激素治疗、心血管风险、内分泌代谢及肝脏异常、感觉神经性疾病、骨质疏松症及其治疗等方面提取的信息。

结论

本综述为特纳综合征成年患者的管理提供了建议,并深入探讨了相关医疗问题。核型与临床特征之间的联系提出了一个新的假说来解释这些患者不同的表型和临床异常。

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