Disorders/Differences of Sex Development (DSD) - Translational Research Network

性发育障碍/差异 (DSD) - 转化研究网络

• 批准号: 10590830
• 负责人: DAVID Eric. SANDBERG
• 金额: $ 13.26万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-07-15 至 2024-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10590830
• 关键词: Addendum; Address; Administrative Supplement; Advocacy; Anatomy; Authorization documentation; Award; Bioethical Issues; Bioethics; Bioethics Consultants; Caregivers; Caring; Cataloging; Child; Childhood; Clinical; Clinical Management; Communities; Consent; Consent Forms; Data; Decision Making; Development; Disease; Distress; Documentation; Elective Surgical Procedures; Elements; Emotional; Endocrine; Ethics; Expert Opinion; Family; Foundations; Future; Genitourinary system; Goals; Incidence; Infertility; Informed Consent; Institutional Policy; Intervention; Language; Legal; Light; Medical; Medical Records; Minor; Online Systems; Operative Surgical Procedures; Parents; Patient Care; Patients; Persons; Policies; Population; Procedures; Process; Professional Organizations; Provider; Proxy; Research; Research Personnel; Risk; Sexual Development; Site; Societies; Standardization; Surveys; Time; Translating; Translational Research; Urogenital Surgical Procedures; Urology; cancer risk; community involvement; design; evidence base; gender dysphoria; gonadal cancer; implementation barriers; improved; information gathering; knowledge base; medical specialties; member; preference; psychosocial; sex development disorder; shared decision making

ABSTRACT Project Summary / Abstract The focus of the proposed administrative supplement for research on bioethical issues supporting the development of an evidence base intended to inform future policy directions involves informed consent practices for elective urogenital surgery in minors born with atypical somatic sex development, i.e., differences / disorders of sex development (DSD). DSD are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD comprise a spectrum of medical conditions that, collectively, have an incidence of ~1% of the population and are associated with increased infertility, risks of gonadal cancer, gender dysphoria, psychosocial distress, and pervasive challenges to psychosocial adaptation for patients and their families. For every person with a newly identified DSD, there are multiple clinical management options to consider, most of which are emotionally and ethically challenging. One topic triggering debate and concern across professional, advocacy, and patient communities involves the adequacy of informed consent prior to elective urogenital surgery in minors. Informed consent implies not just a form, but a process, and signed documentation serving as a record of that process. A significant concern regarding current informed consent practices involves decision makers’ access to and understanding of all information material to making an informed decision, combined with weighing potential harms and benefits in light of personal values and preferences. Current surgical informed consent documents used for urogenital surgery in DSD are, however, generally the same as those for any other surgical procedure. Given specific concerns and controversies surrounding consent procedures, the status quo regarding proxy informed “permission” for elective and irreversible surgical procedures appears inadequate. It is unclear why more detailed and DSD-specific language and forms are not in use and what barriers exist in implementation of forms with augmented details. The goal of this project is to design new surgical consent forms (or language that can be incorporated into, or function as a required addendum to, established forms). This will be accomplished by creating a knowledge base regarding current the features of standard surgical informed consent documents and what should be included (via expert opinion survey), comprehensively comparing identified needs vs the current status, summarizing findings in the form of proposed language intended for inclusion in standardized informed consent documents, and systematic identification and cataloguing of barriers to altering current informed consent documents extending into legal and policy-level realms.

摘要 项目总结/摘要 拟议的生物伦理学问题研究行政补充文件的重点是， 建立一个旨在为今后的政策方向提供信息的证据基础涉及知情同意 对出生时具有非典型性发育的未成年人进行选择性泌尿生殖外科手术的做法，即，差异 性发育障碍（DSD）。DSD是一种先天性疾病，其中染色体、性腺或 解剖学上的性别发育是不典型的。DSD包括一系列医学病症，这些病症共同具有 发病率约占人口的1%，并与不孕症增加，性腺癌风险， 性别焦虑、心理社会困扰以及患者心理社会适应的普遍挑战， 家人对于每一个新发现的DSD患者，都有多种临床管理选择， 考虑，其中大多数是情感和道德上的挑战。一个引发争论和关注的话题 跨专业，倡导和患者社区涉及知情同意之前的充分性， 未成年人选择性泌尿生殖外科手术。 知情同意不仅仅意味着一种形式，而是一个过程，签署的文件可以作为记录 过程关于目前知情同意做法的一个重大关切涉及决策者的获取 了解所有信息材料，以做出明智的决定，结合权衡 根据个人价值观和偏好确定潜在的危害和益处。当前手术知情同意书 然而，DSD中用于泌尿生殖外科的文件通常与任何其他 外科手术 鉴于围绕同意程序的具体关切和争议， 对选择性和不可逆转的外科手术的知情“许可”似乎不够。目前还不清楚为什么 没有使用更详细和专门针对数据集定义的语言和表格， 增加细节的形式。该项目的目标是设计新的手术同意书（或语言 可纳入既定表格或作为既定表格的必要增编）。这将是 通过创建关于当前标准手术信息的特征的知识库来完成 同意文件和应包括的内容（通过专家意见调查），全面比较 已确定的需求与现状，以拟议语言的形式总结调查结果， 纳入标准化的知情同意文件，并系统地查明和编目 修改当前知情同意文件的障碍延伸到法律的和政策层面。

项目成果

Towards improved genetic diagnosis of human differences of sex development.

• DOI: 10.1038/s41576-021-00365-5
• 发表时间: 2021-09
• 期刊: Nature reviews. Genetics

Gender identity: A psychosocial primer for providing care to patients with a disorder/difference of sex development and their families [individualized care for patients with intersex (Disorders/differences of sex development): Part 2].

• DOI: 10.1016/j.jpurol.2020.06.026
• 发表时间: 2020-10
• 期刊: Journal of pediatric urology
• 影响因子: 2
• 作者: Ernst MM;Kogan BA;Lee PA
• 通讯作者: Lee PA

Preface: Challenges in caring for patients with disorders of sex development.

前言：护理性发育障碍患者面临的挑战。

• DOI: 10.1016/j.sempedsurg.2019.150837
• 发表时间: 2019
• 期刊: Seminars in pediatric surgery
• 影响因子: 1.7
• 作者: vanLeeuwen,Kathleen;Grimsby,Gwen;Weidler,EricaM
• 通讯作者: Weidler,EricaM

Information sharing in differences of sex development: The creation of a caregiver-support tool.

性别发育差异的信息共享：创建护理人员支持工具。

• DOI: 10.1037/fsh0000724
• 发表时间: 2023
• 期刊: Families, systems & health : the journal of collaborative family healthcare
• 作者: Moyer,DanielleN;Suorsa-Johnson,KristinaI;Weidler,EricaM;Ernst,MichelleM;DSD-TRNPsychosocialWorkgroup
• 通讯作者: DSD-TRNPsychosocialWorkgroup

Creation of an Electronic Resource Repository for Differences of Sex Development (DSD): Collaboration Between Advocates and Clinicians in the DSD-Translational Research Network.

• DOI: 10.1159/000524629
• 发表时间: 2022
• 期刊: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation