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

基本信息

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
项目类别：
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

项目摘要

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.

项目概要性发育差异（或障碍）（DSD）是一个上位术语，涵盖先天性发育障碍染色体、性腺或解剖学性别发育不典型的情况。根据定义，每 200 到 1,000 人中就有 1 人出生时患有某种程度的非典型性发育。 DSD 的管理处于不断变化的状态，专业人士、倡导者和管理者之间存在分歧。患者社区关于最佳护理的分子诊断和手术技术的进展、研究结果。关于受影响者的心理结果以及患者倡导团体的参与，导致了出席会议的国际专家在DSD领域达成共识和患者倡导共识。建议包括改变诊断和临床管理策略以及术语删除的术语被认为是令人困惑和污名化的；例如“双性人”、“雌雄同体”、 “假两性”和“性逆转”。虽然科学界和医学界迅速采用了新的命名法，但患者界也纷纷发声一些人强烈反对“紊乱”这个词——将其视为非典型的不必要的病态化导致人们认为需要进行潜在有害的外科“正常化”程序的机构。受影响的成年人现在更喜欢“双性人”这个词——指的是一种身份，而不是一种医疗状况。对于什么是最佳方案，医疗服务提供者、倡导者和患者群体几乎没有达成一致意见引发争议的临床管理主题包括决策- 改变抚养性别、生殖器手术及其时间、性腺切除以及披露诊断细节这些争议的证据存在于医学文献、社交媒体和法院中，但仍存在争议。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检验患者、家长、医疗保健提供者如何和其他利益相关者对 DSD 医疗保健服务的定义和最佳价值有不同的定义。建议研究的目的如下： (1) 评估持份者对渠务署的重视程度立即和即时的临床管理选项（即确定什么构成“成功的结果”） (2) 确定不同的权衡偏好（例如，生殖器外观、保留生殖器外观之间的权衡）生育能力、性功能、隐私、患者自主权）以及不同利益相关者做出的选择过程 (3) 为利益相关者设计和试点循证课程，明确优先事项并将其整合起来提供证据以促进知情和共同决策的提出的理解方法。对临床管理要素进行差异化评估并开发数据驱动课程是可能的可推广到涉及多学科护理的其他先天性或慢性疾病，其中治疗是有选择性并取决于患者/家庭的价值观和偏好。