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: 9175465
• 负责人: DAVID Eric. SANDBERG
• 金额: $ 57.74万
• 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 2021-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9175465
• 关键词: Adolescent; Adopted; Adult; 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; Fertility; Focus Groups; Fright; Future; Gender; Genital system; Genitourinary system; Goals; Gonadal structure; Health; Health Personnel; Hermaphroditism; 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; Procedures; Process; Provider; Pseudohermaphroditism; Publishing; Quality of life; Recommendation; Research; Research Design; Risk; Sex Functioning; Sexual Development; Societies; Techniques; Terminology; Therapeutic; Time; Variant; base; clinical care; court; design; evidence base; experience; functional outcomes; genital surgery; health care delivery; health care quality; health related quality of life; multidisciplinary; patient advocacy group; patient privacy; 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.

项目总结 性发育差异(或障碍)是一个包含先天发育的上位术语 性腺发育异常染色体、性腺或解剖性发育不典型的状态采用包容性的 定义是，每200到1000人中就有1人出生时就有某种程度的非典型性发育。临床 DSD的管理处于不断变化的状态，专业人士、倡导者和 关于最佳护理的患者社区。分子诊断和外科技术的新进展 关于受影响人群的心理结果，以及患者倡导团体的参与，导致了 由DSD领域的国际专家和患者倡导参加的共识会议。共识 建议包括更改诊断和临床管理策略以及命名法。 它消除了被认为令人困惑和耻辱的术语；例如，“双性人”、“雌雄同体”， “假两性畸形”和“性反转”。 当科学界和医学界迅速采用新的命名法时，发声患者社区 元素们强烈反对“紊乱”这个词--将其视为非典型肺炎的不必要的病理性表现。 有助于认识到可能有害的外科“正常化”程序的需要的机构。一些人 受影响的成年人现在更喜欢使用“双性人”这个词--指的是一种身份，而不是一种医学状况。此外， 对于什么是最佳选择，提供者、倡导者和患者群体之间几乎没有达成一致意见 关爱病人和家属。引发争议的临床管理话题包括决策- 改变养育的性别，生殖器手术及其时机，性腺切除，并披露诊断细节 对病人来说。这些争议的证据存在于医学文献、社交媒体和法庭上，然而 关于利益相关者如何评价各种结果，明显缺乏讨论，更不用说达成共识了。 目前还没有一项研究旨在系统地研究患者、父母、医疗保健提供者 和其他利益相关者以不同的方式定义和评估最佳的DSD医疗保健服务。 建议的研究有以下目的：(1)评估持份者对渠务署的重要性 临床管理选项(即，确定什么是“成功的结果”)，包括立即和 未来；(2)确定不同的权衡偏好(例如，生殖器外观、保存 生育、性功能、隐私、患者自主权)和由不同利益相关者做出的选择过程 小组；(3)为利益攸关方设计和试点循证课程，明确优先事项，并将其纳入 有证据促进知情和共享的决策。建议的理解方法 临床管理要素的不同评估和开发数据驱动的课程是潜在的 可推广到其他先天性或慢性疾病，涉及多学科护理，其中治疗 可选的，取决于患者/家人的价值观和偏好。