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.

项目摘要 性发育差异（或障碍）（DSD）是一个上位术语，包括先天性 染色体、性腺或解剖学上的性别发育不典型的病症。采用包容性 根据定义，每200到1,000人中就有1人出生时具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，专业人员、宣传人员和 患者社区的最佳护理。分子诊断和外科技术的进展，发现 关于受影响者的心理结果，以及患者倡导团体的参与，导致了一个 由DSD领域和患者倡导领域的国际专家参加的共识会议。共识 建议包括改变诊断和临床管理策略以及命名 消除了被认为是混淆和侮辱性的术语;例如，“双性”，“雌雄同体” “假两性畸形”和“性反转” 当科学和医学界迅速采用新的命名法时， 元素强烈反对“障碍”一词-体验它作为不必要的病理化的非典型 这些机构有助于对潜在有害的外科“正常化”程序的感知需求。一些 受影响的成年人现在更喜欢“双性”一词--指的是一种身份，而不是一种医学状况。此外，本发明的目的是， 关于什么是最佳的，提供者、倡导者和患者社区之间几乎没有达成一致 照顾病人和家属。引发争议的临床管理主题包括决策- 改变抚养的性别，生殖器手术及其时机，性腺切除，并披露诊断细节 给病人。这些争议的证据存在于医学文献、社交媒体和法庭上，然而， 关于利益攸关方如何评价各种成果，显然缺乏讨论，更谈不上共识。 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， 和其他利益相关者不同地定义和评价最佳的DSD医疗保健服务。 建议的研究目的如下：（1）评估持份者对渠务署的重视程度 临床管理选项（即，确定什么是“成功的结果”）， 未来;（2）确定不同的权衡偏好（例如，生殖器外观、保护 生育、性功能、隐私、患者自主权）和不同利益相关者的选择过程 （3）为利益攸关方设计和试行循证课程，明确优先事项，并将这些优先事项纳入 提供证据，以促进知情和共同决策。建议的理解方法 临床管理要素的差异评价和开发数据驱动的课程可能是 可推广至涉及多学科护理的其他先天性或慢性疾病，其中治疗 选择性和依赖于患者/家庭价值观和偏好。