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特纳综合征:从儿童期到青春期的过渡。

Turner Syndrome: transition from childhood to adolescence.

机构信息

Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.

Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, "Agia Sophia" Children's Hospital, Athens, Greece.

出版信息

Metabolism. 2018 Sep;86:145-153. doi: 10.1016/j.metabol.2017.12.016. Epub 2018 Jan 6.

DOI:10.1016/j.metabol.2017.12.016
PMID:29309748
Abstract

Transition from pediatric to adult care for young women with Turner Syndrome (TS) is characterized by high drop-out rates and inadequate follow-up, leading to increased morbidity and mortality. The complexity of the health issues young women with TS face or new problems that may arise warrants a well-structured and efficiently coordinated gradual transition plan, which is adapted to the individual needs of the emerging young adult and is based on interdisciplinary communication between physicians. In order to achieve a high level of care, it is important for the patient to be sincerely informed about her condition but also supported throughout this critical period of rising responsibility and autonomy by an experienced, multidisciplinary team. In this review, we present the basic concepts that should characterize transition and the major health issues that should be thoroughly addressed, including growth, Hormone Replacement Treatment and fertility options, cardiovascular disease, bone health, gastrointestinal disorders, autoimmunity, orthopaedic and ENT issues, as well as the overall psychological well-being of the young adult with TS.

摘要

从儿科到特纳综合征(TS)成年期的过渡,其特征是高辍学率和随访不足,导致发病率和死亡率增加。年轻女性 TS 面临的健康问题的复杂性或可能出现的新问题,需要制定一个结构良好且协调有效的逐步过渡计划,该计划适应于新兴年轻成人的个体需求,并基于医生之间的跨学科沟通。为了实现高水平的护理,重要的是要让患者真诚地了解自己的病情,并且在这个责任和自主权不断上升的关键时期,还需要有一个经验丰富的多学科团队为其提供支持。在这篇综述中,我们提出了应具有过渡特征的基本概念和应彻底解决的主要健康问题,包括生长、激素替代治疗和生育选择、心血管疾病、骨骼健康、胃肠道疾病、自身免疫、骨科和耳鼻喉科问题以及 TS 年轻成人的整体心理健康。

相似文献

1
Turner Syndrome: transition from childhood to adolescence.特纳综合征:从儿童期到青春期的过渡。
Metabolism. 2018 Sep;86:145-153. doi: 10.1016/j.metabol.2017.12.016. Epub 2018 Jan 6.
2
A Multidisciplinary Approach to Puberty and Fertility in Girls with Turner Syndrome.特纳综合征女孩青春期与生育能力的多学科研究方法
Pediatr Endocrinol Rev. 2016 Sep;14(1):33-47. doi: 10.17458/PER.2016.CCALM.MultidisciplinaryApproach.
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Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.意大利特纳综合征患者从儿科到成人照护的过渡:TRAMITI 项目的共识声明。
J Endocrinol Invest. 2024 Jul;47(7):1585-1598. doi: 10.1007/s40618-024-02315-4. Epub 2024 Feb 20.
4
Turner syndrome and clinical treatment.特纳综合征与临床治疗。
Br Med Bull. 2008;86:77-93. doi: 10.1093/bmb/ldn015. Epub 2008 Apr 9.
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[Turner syndrome: overview of problems, present status, proposals for care and a protocol for monitoring in childhood, adolescence and adulthood].[特纳综合征:问题概述、现状、护理建议及儿童、青少年和成年期监测方案]
Cas Lek Cesk. 2001 Aug 30;140(17):533-7.
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Clinical care of adult Turner syndrome--new aspects.成人特纳综合征的临床护理——新进展
Pediatr Endocrinol Rev. 2012 May;9 Suppl 2:739-49.
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Transition from pediatrics to adult health care in girls with turner syndrome.特纳综合征女孩从儿科到成人保健的过渡。
Expert Rev Endocrinol Metab. 2024 May;19(3):229-240. doi: 10.1080/17446651.2024.2347265. Epub 2024 Apr 25.
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Turner syndrome--issues to consider for transition to adulthood.特纳综合征——向成年期过渡时需考虑的问题。
Br Med Bull. 2015 Mar;113(1):45-58. doi: 10.1093/bmb/ldu038. Epub 2014 Dec 22.
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Transitions in endocrinology: treatment of Turner's syndrome during transition.内分泌学的转变:特纳综合征过渡期的治疗。
Eur J Endocrinol. 2013 Dec 27;170(2):R57-74. doi: 10.1530/EJE-13-0900. Print 2014 Feb.
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Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.特纳综合征女性患者的护理:特纳综合征研究组指南
J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. doi: 10.1210/jc.2006-1374. Epub 2006 Oct 17.

引用本文的文献

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BMC Pediatr. 2025 Jul 17;25(1):557. doi: 10.1186/s12887-025-05891-3.
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Clinical practice guidelines for the care of girls and women with Turner syndrome.特纳综合征患者的护理临床实践指南。
Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050.
3
Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome.
评估特纳综合征患儿 X 染色体缺失比例与临床表现之间的关系。
Front Endocrinol (Lausanne). 2024 Feb 28;15:1324160. doi: 10.3389/fendo.2024.1324160. eCollection 2024.
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Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.意大利特纳综合征患者从儿科到成人照护的过渡:TRAMITI 项目的共识声明。
J Endocrinol Invest. 2024 Jul;47(7):1585-1598. doi: 10.1007/s40618-024-02315-4. Epub 2024 Feb 20.
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Transition of young adults with metabolic bone diseases to adult care.代谢性骨病青年患者向成人医疗的过渡。
Front Endocrinol (Lausanne). 2023 Mar 17;14:1137976. doi: 10.3389/fendo.2023.1137976. eCollection 2023.
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The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty.血清抗苗勒管激素水平对诊断自然青春期特纳综合征的截断值
Int J Endocrinol. 2023 Feb 16;2023:6976389. doi: 10.1155/2023/6976389. eCollection 2023.
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Front Genet. 2022 Feb 22;13:799783. doi: 10.3389/fgene.2022.799783. eCollection 2022.
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Effects of Psychosomatic Mutual Aid Treatment on Anxiety and Depression in Turner Syndrome.心身互助治疗对特纳综合征焦虑和抑郁的影响
Front Psychiatry. 2021 May 10;12:644147. doi: 10.3389/fpsyt.2021.644147. eCollection 2021.
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Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence.儿童和青少年特定遗传性综合征中的自身免疫性甲状腺疾病。
Front Endocrinol (Lausanne). 2020 Aug 19;11:543. doi: 10.3389/fendo.2020.00543. eCollection 2020.
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Comprehensive medical treatment of women with Turner syndrome may improve pregnancy outcomes: A case report.特纳综合征女性的综合医学治疗可能改善妊娠结局:一例报告
Clin Pediatr Endocrinol. 2019;28(2):37-41. doi: 10.1297/cpe.28.37. Epub 2019 Apr 24.