Sandberg D E, Callens N, Wisniewski A B
Department of Pediatrics & Communicable Diseases and the Child Health Evaluation and Research (CHEAR) Unit, University of Michigan Medical School, Ann Arbor, USA.
Department of Urology, University of Oklahoma Health Sciences Center, Oklahoma City, USA.
Horm Metab Res. 2015 May;47(5):387-93. doi: 10.1055/s-0035-1548936. Epub 2015 May 13.
Syndromes resulting in Disorders of Sex Development (DSD) are individually rare. Historically, this fact has hindered both clinical research and the delivery of evidence-based care. Recognizing the need for advancement, members of European and North American medical societies produced policy statements, notably the Consensus Statement on Management of Intersex Disorders, which recognize that optimal healthcare in DSD requires multidisciplinary teams in conjunction with networking of treatment centers and continued development of patient registries. This paper summarizes efforts in Europe and the U.S. toward creating networks focused on expanding discovery and improving healthcare and quality of life outcomes in DSD. The objectives and function of registry-based networks (EuroDSD/I-DSD), learning collaboratives (DSD-net), clinical outcomes research (DSD-Life), and networking hybrids (DSD-TRN) are reviewed. Opportunities for, and barriers to standardization in research and care are highlighted in light of practical considerations, for example, limitations in reliably classifying anatomic phenotypes and gaps in behavioral health staffing resources. The role of patient-reported outcomes is considered, with emphasis on integrating patient perspectives, given findings of limited agreement in outcome ratings by healthcare providers and patients. Finally, the characteristics of clinical centers likely to deliver the highest quality outcomes are discussed.
导致性发育障碍（DSD）的综合征个体发病率较低。从历史上看，这一事实阻碍了临床研究以及循证医疗的提供。认识到需要取得进展，欧洲和北美医学协会的成员发表了政策声明，特别是《关于间性疾病管理的共识声明》，该声明认识到DSD的最佳医疗保健需要多学科团队，以及治疗中心之间的网络联系和患者登记处的持续发展。本文总结了欧洲和美国在创建网络方面所做的努力，这些网络专注于扩大发现范围，并改善DSD患者的医疗保健和生活质量。文中回顾了基于登记处的网络（欧洲性发育障碍网络/国际性发育障碍网络）、学习协作组织（性发育障碍网络）、临床结局研究（性发育障碍生命研究）以及混合型网络（性发育障碍转化研究网络）的目标和功能。鉴于实际考虑因素，例如在可靠分类解剖表型方面的局限性以及行为健康人员资源方面的差距，文中强调了研究和医疗保健标准化的机遇与障碍。文中考虑了患者报告结局的作用，鉴于医疗保健提供者和患者在结局评分方面的一致性有限，重点在于整合患者的观点。最后，讨论了可能提供最高质量结局的临床中心的特征。
