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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.

DOI:10.17925/EE.2024.20.2.4
PMID:39526059
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11548355/
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
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e0a/11548355/81567c7c0fc8/touchendo-20-2-016-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e0a/11548355/81567c7c0fc8/touchendo-20-2-016-g001.jpg

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2
Improving the quality of publications in and advancing the paradigms of clinical and social pharmacy practice research: the Granada Statements.提高临床和社会药学实践研究出版物的质量并推进其研究范式:格拉纳达声明。
Int J Clin Pharm. 2023 Apr;45(2):285-292. doi: 10.1007/s11096-023-01550-8.
3
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).
英国内分泌学会关于疑似性别发育差异或障碍的初步评估指南(2021 年修订)。
Clin Endocrinol (Oxf). 2021 Dec;95(6):818-840. doi: 10.1111/cen.14528. Epub 2021 Jun 22.
4
What Does AMH Tell Us in Pediatric Disorders of Sex Development?抗缪勒管激素在儿童性别发育障碍中的作用
Front Endocrinol (Lausanne). 2020 Sep 8;11:619. doi: 10.3389/fendo.2020.00619. eCollection 2020.
5
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.21-羟化酶缺乏所致先天性肾上腺皮质增生症
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6
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J Sex Res. 2021 May;58(4):522-531. doi: 10.1080/00224499.2019.1703130. Epub 2020 Jan 27.
7
Caring for individuals with a difference of sex development (DSD): a Consensus Statement.关爱性发育差异(DSD)个体:共识声明。
Nat Rev Endocrinol. 2018 Jul;14(7):415-429. doi: 10.1038/s41574-018-0010-8.
8
Glans duplication: In-depth review and proposal of a new classification.阴茎头重复畸形:深入综述及新分类法建议
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9
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Horm Res Paediatr. 2016;85(3):158-80. doi: 10.1159/000442975. Epub 2016 Jan 28.
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