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特纳综合征患者的护理临床实践指南。

Clinical practice guidelines for the care of girls and women with Turner syndrome.

机构信息

Department of Endocrinology, Aarhus University Hospital, 8200 Aarhus N, Denmark.

Department of Molecular Medicine, Aarhus University Hospital, 8200 Aarhus N, Denmark.

出版信息

Eur J Endocrinol. 2024 Jun 5;190(6):G53-G151. doi: 10.1093/ejendo/lvae050.

DOI:10.1093/ejendo/lvae050
PMID:38748847
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11759048/
Abstract

Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.

摘要

特纳综合征(TS)影响每 10 万名女性中的 50 人。TS 通过生命的所有阶段影响多个器官,需要多学科的护理。本指南扩展了之前的指南,包括在诊断和遗传学、雌激素治疗、生育能力、合并症以及神经认知和神经心理学方面的重要新进展。2021 年在欧洲和美国举行了探索性会议,最终于 2023 年 6 月在丹麦奥胡斯举行了共识会议。在此之前,八个小组处理了 TS 护理的重要领域:(1)诊断和遗传学,(2)生长,(3)青春期和雌激素治疗,(4)心血管健康,(5)过渡,(6)生育能力评估、监测和咨询,(7)整个生命周期合并症的健康监测,以及(8)神经认知及其对心理健康和幸福感的影响。每个小组都为本指南提出了建议,整个小组对这些建议进行了细致的讨论。四个相关问题提交给了正式的 GRADE(推荐分级、评估、开发和评估)评估,并对文献进行了系统回顾。本指南项目由欧洲内分泌学会和儿科内分泌学会发起,与欧洲儿科内分泌学会、欧洲人类生殖与胚胎学会、欧洲罕见内分泌疾病网络、内分泌学会和欧洲心脏病学会、日本儿科内分泌学会、澳大利亚和新西兰儿科内分泌学会和糖尿病学会、拉丁美洲儿科内分泌学会、阿拉伯儿科内分泌学会和糖尿病学会以及亚太儿科内分泌学会的成员合作完成。倡导团体任命代表参加会前讨论和共识会议。

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The impact of amplification on quality of life in women with Turner syndrome.特纳综合征女性中扩增对生活质量的影响。
Orphanet J Rare Dis. 2024 Mar 13;19(1):119. doi: 10.1186/s13023-024-03122-z.
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Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.
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Front Pediatr. 2025 Jul 31;13:1622222. doi: 10.3389/fped.2025.1622222. eCollection 2025.
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Bilateral Streak Ovaries in a Patient with Isochromosome Xq: A Case Report of a Turner Syndrome Variant.一名Xq等臂染色体患者的双侧条索状卵巢:特纳综合征变异型的病例报告
Int Med Case Rep J. 2025 Aug 4;18:953-961. doi: 10.2147/IMCRJ.S529460. eCollection 2025.
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