Caring for individuals with a difference of sex development (DSD): a Consensus Statement
Caring for individuals with a difference of sex development (DSD): a Consensus Statement
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DOI：
10.1038/s41574-018-0010-8
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发表时间：
2018-07-01
影响因子：
40.5
通讯作者：
Pasterski, Vickie
中科院分区：
文献类型：
--
作者：
Cools, Martine;Nordenstroem, Anna;Pasterski, Vickie
性别发育差异（dsd，也称为性发育障碍）是指影响人类性别决定和分化的一组异质先天性疾病。十年前，一些报告强调了患有DSD的个体的生理和性心理结果不理想，导致了对命名和管理的彻底修订。虽然由此产生的关于全面、多学科护理的建议似乎已在世界各地的专门儿科服务机构迅速得到实施，但青少年往往难以获得专家成人护理，并逐渐或突然停止医疗随访。许多患有DSD的成年人都有与健康有关的问题，这些问题仍然没有答案，因为缺乏与生命后期各种情况的自然演变有关的证据。本共识声明由欧洲多学科专家组（包括患者代表）制定，总结了跨年龄DSD患者终身护理和数据收集的循证和基于经验的建议，并强调了临床研究的重点。通过这样做，我们希望有助于提高相关医疗专业人员对这些疾病的理解和管理。此外，我们希望推动多中心研究，以阐明DSD在整个生命周期中的结果和合并症。
The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.