Departments of Endocrinology and Internal Medicine.
Departments of Molecular Medicine.
Eur J Endocrinol. 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430.
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.
特纳综合征影响每 10 万名女性中的 25-50 人,并且可以在生命的所有阶段涉及多个器官,因此需要多学科方法进行治疗。以前的指南已经强调了这一点,但最近已经注意到许多重要的进展。这些进展涵盖了涉及特纳综合征女孩和妇女护理的所有专业领域。本文基于一项国际努力,该努力始于 2014 年在欧洲和美国举行的探索性会议,并最终于 2016 年 7 月在美国俄亥俄州辛辛那提举行了共识会议。在此会议之前,五个小组分别解决了特纳综合征护理中的重要领域:1)诊断和遗传问题,2)儿童和青少年时期的生长和发育,3)先天性和获得性心血管疾病,4)过渡和成人护理,以及 5)其他合并症和神经认知问题。这些小组为本次指南提出了建议。此外,还提交了四个相关问题,供正式的 GRADE(推荐分级,评估,开发和评估)评估进行了单独的文献系统评价。这四个问题涉及身材矮小,不育,高血压和激素替代疗法的疗效和最佳治疗方法。该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,内分泌学会,欧洲人类生殖与胚胎学会,美国心脏协会,内分泌学会和欧洲心脏病学会合作。该指南已得到欧洲内分泌学会,儿科内分泌学会,欧洲儿科内分泌学会,欧洲人类生殖与胚胎学会和内分泌学会的正式认可。倡导团体任命了代表,他们参加了会前讨论和共识会议。