Bondy Carolyn A
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. doi: 10.1210/jc.2006-1374. Epub 2006 Oct 17.
The objective of this work is to provide updated guidelines for the evaluation and treatment of girls and women with Turner syndrome (TS).
The Turner Syndrome Consensus Study Group is a multidisciplinary panel of experts with relevant clinical and research experience with TS that met in Bethesda, Maryland, April 2006. The meeting was supported by the National Institute of Child Health and unrestricted educational grants from pharmaceutical companies.
The study group used peer-reviewed published information to form its principal recommendations. Expert opinion was used where good evidence was lacking.
The study group met for 3 d to discuss key issues. Breakout groups focused on genetic, cardiological, auxological, psychological, gynecological, and general medical concerns and drafted recommendations for presentation to the whole group. Draft reports were available for additional comment on the meeting web site. Synthesis of the section reports and final revisions were reviewed by e-mail and approved by whole-group consensus.
We suggest that parents receiving a prenatal diagnosis of TS be advised of the broad phenotypic spectrum and the good quality of life observed in TS in recent years. We recommend that magnetic resonance angiography be used in addition to echocardiography to evaluate the cardiovascular system and suggest that patients with defined cardiovascular defects be cautioned in regard to pregnancy and certain types of exercise. We recommend that puberty should not be delayed to promote statural growth. We suggest a comprehensive educational evaluation in early childhood to identify potential attention-deficit or nonverbal learning disorders. We suggest that caregivers address the prospect of premature ovarian failure in an open and sensitive manner and emphasize the critical importance of estrogen treatment for feminization and for bone health during the adult years. All individuals with TS require continued monitoring of hearing and thyroid function throughout the lifespan. We suggest that adults with TS be monitored for aortic enlargement, hypertension, diabetes, and dyslipidemia.
本研究旨在为特纳综合征（TS）女性患者的评估与治疗提供最新指南。
特纳综合征共识研究组是一个多学科专家小组，成员具有TS相关临床和研究经验，于2006年4月在马里兰州贝塞斯达召开会议。该会议由美国国立儿童健康与人类发展研究所支持，并获得制药公司提供的无限制教育资助。
研究组利用同行评审的已发表信息形成主要建议。在缺乏充分证据时采用专家意见。
研究组举行为期3天的会议讨论关键问题。分组讨论聚焦于遗传学、心脏病学、体格学、心理学、妇科及普通医学问题，并起草建议提交全体成员。会议网站提供了报告草案以供进一步评论。各部分报告的综合及最终修订通过电子邮件进行评审，并经全体成员达成共识批准。
我们建议，对于产前诊断为TS的患儿父母，应告知其TS广泛的表型谱以及近年来观察到的良好生活质量。我们建议，除超声心动图外，应使用磁共振血管造影评估心血管系统，并建议明确存在心血管缺陷的患者在妊娠和进行某些类型运动时需谨慎。我们建议不应为促进身高增长而延迟青春期。我们建议在幼儿期进行全面教育评估，以识别潜在的注意力缺陷或非言语学习障碍。我们建议护理人员以开放和敏感的方式探讨卵巢早衰的可能性，并强调雌激素治疗对成年期女性化和骨骼健康的至关重要性。所有TS患者在其一生中都需要持续监测听力和甲状腺功能。我们建议对成年TS患者监测主动脉扩张、高血压、糖尿病和血脂异常情况。
