Disorders of sex development (DSD): Clinical service delivery in the United States.
Disorders of sex development (DSD): Clinical service delivery in the United States.
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DOI：
10.1002/ajmg.c.31558
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发表时间：
2017-06
期刊：
影响因子：
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通讯作者：
Advisory Network Accord Alliance
中科院分区：
文献类型：
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作者：
Rolston AM;Gardner M;van Leeuwen K;Mohnach L;Keegan C;Délot E;Vilain E;Sandberg DE;members of the DSD-TRN Advocacy;Advisory Network Accord Alliance
遵循2006年性发育障碍共识声明（DSD）中建议的护理原则，沿着来自同行支持和倡导团体代表的意见，本研究调查了美国医疗机构的DSD临床管理实践。DSD是染色体、性腺或解剖性别发育不典型的先天性疾病。参与的目标是为DSD患者提供护理的设施。专业提供者完成了一项调查，问题分为六大类：机构信息，提名和护理指南，跨学科服务，员工和社区教育，DSD管理和研究。36个目标站点中有22个（61%）参与。在哪些条件被认为是DSD方面，观察到了研究中心之间的差异。所有临床试验机构均报告在一定程度上涉及儿科泌尿科和/或外科以及儿科内分泌科对DSD患者的护理。妇科和泌尿科最经常没有代表。在继续教育标准、获得临床程序知情同意书和特定临床管理实践方面，观察到各研究中心存在很大差异。这项调查是第一次评估DSD临床管理实践在美国。研究结果建立了一个基线的现行做法，提供者提供照顾这些病人和他们的家人可以基准他们的努力。这些调查还提供了一个实际的合作框架，以确定改善受DSD影响的患者和家庭的健康和生活质量的机会。
Following the principles of care recommended in the 2006 Consensus Statement on Disorders of Sex Development (DSD), along with input from representatives of peer support and advocacy groups, this study surveyed DSD clinical management practices at healthcare facilities in the United States. DSD are congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Facilities providing care for patients with DSD were targeted for participation. Specialty providers completed a survey with questions in six broad categories: Institution Information, Nomenclature and Care Guidelines, Interdisciplinary Services, Staff and Community Education, DSD Management, and Research. Twenty-two of 36 targeted sites (61%) participated. Differences were observed between sites with regard to what conditions were considered to be DSD. All sites reported some degree of involvement of pediatric urology and/or surgery and pediatric endocrinology in the care of DSD patients. Gynecology and neonatology were most frequently not represented. Wide variation was observed across sites in continuing education standards, obtaining informed consent for clinical procedures, and in specific clinical management practices. This survey is the first to assess DSD clinical management practices in the United States. The findings establish a baseline of current practices against which providers delivering care to these patients and their families can benchmark their efforts. Such surveys also provide a practical framework for collaboration in identifying opportunities for change that enhance health and quality of life outcomes for patients and families affected by DSD.