特纳综合征女孩和妇女护理临床实践指南》。

IF 5.3 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM European Journal of Endocrinology Pub Date : 2024-06-05 DOI:10.1093/ejendo/lvae050
Claus H Gravholt, Niels H Andersen, Sophie Christin-Maitre, Shanlee M Davis, Anthonie Duijnhouwer, Aneta Gawlik, Andrea T Maciel-Guerra, Iris Gutmark-Little, Kathrin Fleischer, David Hong, Karen O Klein, Siddharth K Prakash, Roopa Kanakatti Shankar, David E Sandberg, Theo C J Sas, Anne Skakkebæk, Kirstine Stochholm, Janielle A van der Velden, Philippe F Backeljauw
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引用次数: 0

摘要

每 10 万名女性中就有 50 人患有特纳综合征,该病影响多个器官,贯穿生命的各个阶段,需要多学科治疗。本指南扩展了之前的指南,并在诊断和遗传学、雌激素治疗、生育、并发症、神经认知和神经心理学方面取得了重要的新进展。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,八个小组讨论了 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)过渡期;6)生育评估、监测和咨询;7)整个生命周期内合并症的健康监测;8)神经认知及其对心理健康和幸福的影响。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。四个相关问题已提交给 GRADE(建议、评估、发展和评价分级)进行正式评估,并对文献进行了系统性审查。该指南项目由欧洲内分泌学会和儿科内分泌学会发起,欧洲儿科内分泌学会、欧洲人类生殖与胚胎学学会、欧洲罕见内分泌疾病参考网络、欧洲内分泌学会、欧洲人类生殖与胚胎学学会和欧洲罕见内分泌疾病参考网络的成员共同参与、内分泌学会、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、阿拉伯儿科内分泌和糖尿病学会以及亚太儿科内分泌学会的成员合作。倡导团体指派了代表参加会前讨论和共识会议。
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Clinical practice guidelines for the care of girls and women with Turner syndrome.

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.

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来源期刊
European Journal of Endocrinology
European Journal of Endocrinology 医学-内分泌学与代谢
CiteScore
9.80
自引率
3.40%
发文量
354
审稿时长
1 months
期刊介绍: European Journal of Endocrinology is the official journal of the European Society of Endocrinology. Its predecessor journal is Acta Endocrinologica. The journal publishes high-quality original clinical and translational research papers and reviews in paediatric and adult endocrinology, as well as clinical practice guidelines, position statements and debates. Case reports will only be considered if they represent exceptional insights or advances in clinical endocrinology. Topics covered include, but are not limited to, Adrenal and Steroid, Bone and Mineral Metabolism, Hormones and Cancer, Pituitary and Hypothalamus, Thyroid and Reproduction. In the field of Diabetes, Obesity and Metabolism we welcome manuscripts addressing endocrine mechanisms of disease and its complications, management of obesity/diabetes in the context of other endocrine conditions, or aspects of complex disease management. Reports may encompass natural history studies, mechanistic studies, or clinical trials. Equal consideration is given to all manuscripts in English from any country.
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