Decision-Making for Patients Born with Differences of Sex Development (DSD)

出生时性别发育差异 (DSD) 患者的决策

• 批准号: 10201685
• 负责人: DAVID Eric. SANDBERG
• 金额: $ 47.05万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-09-14 至 2023-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10201685
• 关键词: Adolescent; Adopted; Adult; Advocacy; Affect; Agreement; Anatomy; Anxiety; Appearance; Attitude; Benign; Birth; Caring; Characteristics; Child; Childhood; Chronic; Clinical Management; Communication; Communities; Consensus; Data; Decision Making; Development; Diagnostic; Disease; Education; Educational Curriculum; Elements; Emergency Situation; Emotional; Endocrine; European; Excision; Family; Focus Groups; Fright; Future; Gender; Genital; Genitalia; Genitourinary system; Goals; Gonadal structure; Health; Health Personnel; Hermaphroditism; Iatrogenesis; Institute of Medicine (U.S.); International; Intersex; Interview; Knowledge; Laws; Lead; Left; Life; Literature; Live Birth; Longevity; Medical; Methodology; Modeling; Molecular Diagnosis; Nomenclature; Operative Surgical Procedures; Outcome; Parents; Patient Care; Patient advocacy; Patient-Centered Care; Patient-Focused Outcomes; Patients; Persons; Practice Management; Privacy; Procedures; Process; Provider; Pseudohermaphroditism; Publishing; Quality of life; Recommendation; Research; Research Design; Risk; Sex Functioning; Sexual Development; Societies; Stigmatization; Techniques; Terminology; Therapeutic; Variant; base; clinical care; court; design; evidence base; experience; fertility preservation; genital surgery; health care delivery; health care quality; health related quality of life; multidisciplinary; patient advocacy group; preference; psychologic; psychological outcomes; resilience; sex; sex development disorder; shared decision making; social media; symposium

PROJECT SUMMARY Differences (or Disorders) of Sex Development (DSD) is a superordinate term encompassing congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Adopting an inclusive definition, between 1 in 200 to 1,000 people are born with some degree of atypical sex development. Clinical management of DSD is in a state of flux with disagreements within and between professional, advocacy, and patient communities regarding optimal care. Advances in molecular diagnosis and surgical techniques, findings regarding psychological outcomes in affected persons, and patient advocacy group engagement, led to a consensus conference attended by international experts in the DSD field and patient advocacy. Consensus recommendations included changes to diagnostic and clinical management strategies and in nomenclature that eliminated terms considered confusing and stigmatizing; e.g., “intersex,” “hermaphroditism,” “pseudohermaphroditism,” and “sex reversal.” While scientific and medical communities rapidly adopted the new nomenclature, vocal patient community elements strongly opposed the word “disorder” - experiencing it as unnecessary pathologization of atypical bodies that contributes to the perceived need for potentially harmful surgical “normalization” procedures. Some affected adults now prefer the term “intersex” - referring to an identity, rather than a medical condition. Further, little agreement exists across provider, advocacy, and patient communities regarding what constitutes optimal care for patients and families. Clinical management topics triggering contentious debate include decision- making over gender of rearing, genital surgery and its timing, gonad removal, and disclosing diagnostic details to patients. Evidence of these controversies exists in medical literature, social media, and courts of law, yet a remarkable lack of discussion, much less consensus, exists on how stakeholders value various outcomes. There has yet to be a study designed to systematically examine how patients, parents, healthcare providers, and other stakeholders differentially define and value optimal DSD health care delivery. The proposed study has the following aims: (1) Assess the importance ascribed by stakeholders to DSD clinical management options (i.e., identify what constitutes a “successful outcome”), both immediately and in the future; (2) Identify differential trade-off preferences (e.g., trade-offs between genital appearance, preserving fertility, sexual function, privacy, patient autonomy) and choice processes made by different stakeholder groups; (3) Design and pilot evidence-based curricula for stakeholders that clarify priorities, and integrate these with evidence to facilitate informed and shared decision-making. The proposed approach to understanding differential valuation of clinical management elements and developing data-driven curricula is potentially generalizable to other congenital or chronic conditions involving multidisciplinary care in which treatments are elective and dependent on patient/family values and preferences.

项目摘要 性发展（DSD）的差异（或疾病）是一个上级术语，包括先天性 染色体，性腺或解剖学性发展的条件是非典型的。采用包容性 定义，在200至1,000人中有1人天生有一定程度的非典型性发展。临床 DSD的管理处于不断变化的状态，在专业，倡导和 有关最佳护理的患者社区。分子诊断和手术技术的进步，发现 有关受影响人群和患者倡导小组参与的关注心理结果，导致了 DSD领域和患者倡导的国际专家参加了共识会议。共识 建议包括更改诊断和临床管理策略以及命名法 这消除了被认为令人困惑和污名化的术语；例如，“双性恋”，“雌雄同体”， “伪恐怖分子主义”和“性逆转”。 虽然科学和医学界迅速采用了新的命名法，但声带患者社区 元素强烈反对“无序”一词 - 将其视为不必要的非典型病理 有助于感知到潜在有害的手术“归一化”程序的身体。一些 现在，受影响的成年人更喜欢“双性恋”一词 - 指的是身份，而不是医疗状况。此外， 关于构成最佳的提供者，倡导和患者社区之间的协议很少 照顾患者和家庭。临床管理主题引发了争议性辩论包括决策 - 过度饲养性别，生殖器手术及其时间，删除性腺并披露诊断细节 给患者。这些争议的证据存在于医学文献，社交媒体和法院，但 关于利益相关者如何重视各种成果，存在明显的讨论，更少的共识。 尚未进行一项研究，旨在系统地研究患者，父母，医疗保健提供者， 以及其他利益相关者定义和价值最佳的DSD医疗保健提供。 拟议的研究具有以下目的：（1）评估利益相关者分配给DSD的重要性 临床管理方案（即，确定什么构成“成功结果”），无论是立即和IN 未来； （2）确定差异权衡偏好（例如，生殖器外观之间的权衡，保存 生育能力，性功能，隐私，患者自治）和不同利益相关者进行的选择过程 群体； （3）针对利益相关者设计和试点证据的课程，以阐明优先事项并将其整合 有证据以促进知情和共同的决策。拟议的理解方法 临床管理要素的差异价值和开发数据驱动的课程可能是 可推广到其他涉及多学科护理的先天性或慢性病，其中治疗是 选择性和依赖于患者/家庭价值观和偏好。

项目成果

Surgical Decision-Making for Individuals with Differences of Sex Development: Stakeholders' views.

性别发育差异个体的手术决策：利益相关者的观点。

• DOI: 10.3389/fruro.2023.1092256
• 发表时间: 2023
• 期刊: Frontiers in urology
• 作者: Weidler,EricaM;Gardner,Melissa;Suorsa-Johnson,KristinaI;Schafer-Kalkhoff,Tara;Rutter,MeilanM;Sandberg,DavidE;vanLeeuwen,Kathleen
• 通讯作者: vanLeeuwen,Kathleen

Editorial: Shared Decision Making in Pediatric Differences/Disorders of Sex Development.

社论：儿科差异/性发育障碍的共同决策。

• DOI: 10.3389/fruro.2023.1281181
• 发表时间: 2023
• 期刊: Frontiers in urology
• 作者: Suorsa-Johnson,Kristina;Delaney,RebeccaK;Fagerlin,Angela;Sandberg,DavidE
• 通讯作者: Sandberg,DavidE

Response to commentary re a survey of healthcare professionals' perceptions of the decisional needs of parents with an infant born with a disorder/difference of sex development.

• DOI: 10.1016/j.jpurol.2022.10.032
• 发表时间: 2023-02
• 期刊: JOURNAL OF PEDIATRIC UROLOGY
• 影响因子: 2
• 作者: Suorsa-Johnson, Kristina I.;Sandberg, David E.;Stacey, Dawn
• 通讯作者: Stacey, Dawn

Differences/Disorders of Sex Development: Medical Conditions at the Intersection of Sex and Gender.

• DOI: 10.1146/annurev-clinpsy-081219-101412
• 发表时间: 2022-05-09
• 期刊: ANNUAL REVIEW OF CLINICAL PSYCHOLOGY
• 影响因子: 18.4
• 作者: Sandberg, David E.;Gardner, Melissa
• 通讯作者: Gardner, Melissa

Defining successful outcomes and preferences for clinical management in differences/disorders of sex development: Protocol overview and a qualitative phenomenological study of stakeholders' perspectives.

• DOI: 10.1016/j.jpurol.2021.10.020
• 发表时间: 2022-03
• 期刊: Journal of pediatric urology
• 影响因子: 2
• 作者: Suorsa-Johnson KI;Gardner MD;Baskin A;Gruppen LD;Rose A;Rutter MM;Schafer-Kalkhoff T;Stacey D;van Leeuwen KD;Weidler EM;Sandberg DE
• 通讯作者: Sandberg DE