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精准医学时代性发育障碍(DSD)患者的诊疗方法:术语的谨慎使用

The Approach to Patients with Disorders of Sex Development (DSD) in the Era of Precision Medicine: The Careful Use of Terminology.

作者信息

Rey Rodolfo A

机构信息

Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.

出版信息

touchREV Endocrinol. 2024 Oct;20(2):16-18. doi: 10.17925/EE.2024.20.2.4. Epub 2024 Mar 28.

Abstract

The term "DSD" was coined for "disorders of sex development", referring to conditions where the chromosomal, gonadal and/or genital sex is discordant or ambiguous, to replace terms considered imprecise and stigmatizing. Recently, the term "disorder" has been questioned and the term "differences" has been proposed as not stigmatizing, reflecting that the term DSD should be depathologized. In this opinion article, I discuss the importance of using precise technical terminologies amongst healthcare professionals, in the era of "precision medicine", to avoid misleading diagnoses or classifications while being extremely careful to use sensitive terminologies when interacting with patients and their families. On the other hand, I challenge the concept that DSD are not disorders.

摘要

术语“DSD”是为“性发育障碍”创造的,指染色体、性腺和/或生殖器性别不一致或不明确的情况,以取代被认为不精确且带有污名化的术语。最近,“障碍”一词受到质疑,有人提出“差异”一词没有污名化含义,这反映出DSD这一术语应去除病理化色彩。在这篇观点文章中,我讨论了在“精准医学”时代,医疗保健专业人员使用精确技术术语的重要性,以避免误导性诊断或分类,同时在与患者及其家属互动时要极其谨慎地使用敏感术语。另一方面,我对DSD不是疾病这一概念提出质疑。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e0a/11548355/81567c7c0fc8/touchendo-20-2-016-g001.jpg

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