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

性发育障碍/差异 (DSD) - 转化研究网络

基本信息

批准号：
9912798
负责人：
DAVID Eric. SANDBERG
金额：
$ 73.75万
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：
2018
资助国家：
美国
起止时间：
2018-07-15 至 2023-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9912798
关键词：
Advocacy Affect Anatomy Bioethics Biology Caregivers Caring Child Child Development Chronic stress Clinical Management Clinical Practice Guideline Clinical Research Collaborations Communities Consensus Cryptorchidism Data Decision Making Development Diagnosis Diagnostic Disease Educational workshop Elements Emotional Endocrinology Environment Family Female Fertility Functional disorder Gender Genes Genetic Genital system Genitourinary system Genotype Goals Health Health Personnel Healthcare Hormones Human Human Rights Hypertrophy Hypospadias Incidence Infrastructure International Investigation Knowledge Laws Leadership Legal Link Literature Longevity Longitudinal prospective study Medical Medical Care Team Medical Genetics Mining Molecular Diagnosis National Institute of Child Health and Human Development Newborn Infant Operative Surgical Procedures Outcome Pathology Pathway interactions Patient Care Patient advocacy Patient-Focused Outcomes Patients Persons Phenotype Population Practice Management Prospective Studies Psychological adjustment Psychosocial Assessment and Care Publishing Quality of life Rare Diseases Records Reporting Reproducibility Research Risk Sex Differences Sexual Development Sexual Health Sexual and Gender Minorities Social Environment Standardization Techniques Translational Research Treatment Protocols Uncertainty United States National Institutes of Health Uterus Variant advocacy organizations ambiguous genitalia behavioral health cancer risk clinical care clinical practice court evidence base experience health care disparity health care quality health disparity improved male malformation medical specialties patient advocacy group patient registry personalized diagnostics prospective psychological outcomes psychosocial resilience sex sex development disorder social social media social stigma symposium treatment strategy

项目摘要

PROJECT SUMMARY Disorders/Differences of Sex Development (DSD) is an umbrella term covering congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. DSD are phenotypically heterogeneous, ranging from genital malformations (hypospadias, cryptorchidism, clitoral hypertrophy) to genital ambiguity. DSD have a collective incidence of about 1% and can result in serious consequences for fertility, cancer risk and quality of life across the lifespan. Debate over clinical management, in particular gender assignment and genital or gonadal surgery, has intensified; yet scientific data informing best practices remain limited. Clinical care in DSD is hampered by a fragmented research agenda and lack of standardization, leaving fundamental gaps in knowledge of DSD pathology and links between treatment options and desired outcomes. Major obstacles include gaps in understanding of pathophysiology (impeding precise diagnostic categorization), the absence of prospective longitudinal studies of psychosocial outcomes, and the potential moderating influence of biomedical, psychosocial and legal factors on medical decision making. This project is the first of its kind, globally, to prospectively study the variable pathways from DSD diagnosis and clinical management to psychosocial adaptation. This goal will be accomplished by exploiting the infrastructure and robust collaboration of the DSD–Translational Research Network (DSD-TRN). The Network comprises a consortium of 12 interdisciplinary healthcare teams across the nation in conjunction with patient stakeholder and bioethics representation. Our guiding principle is that evidence-based standardization of diagnostic and treatment protocols will be associated with higher rates of definitively diagnosed DSD, reduced variation in clinical practice, enhanced patient/family healthcare-related experiences, and improved psychosocial outcomes for patients and their families. The proposed project will deliver evidence needed to raise the quality of healthcare in DSD to levels observed for other rare diseases. Specific aims include: 1. Genetics. Improving and expanding the molecular diagnosis of DSD; 2. Psychosocial. Identifying diagnostic, clinical care, and family risk and resilience factors associated with variability in psychological outcomes of patients with DSD and their families; 3. Determinants of clinical management. Identifying biomedical, legal, and psychosocial determinants of clinical management decisions.

项目概要性发育障碍/差异 (DSD) 是一个涵盖先天性疾病的总称，其中染色体、性腺或解剖学性别发育是非典型的，范围从生殖器畸形（尿道下裂、隐睾、阴蒂肥大）到生殖器模糊。 DSD 的总体发病率约为 1%，可对生育能力和癌症风险造成严重后果关于临床管理的争论，特别是性别分配和整个生命周期的生活质量。生殖器或性腺手术已加强；但提供最佳实践的科学数据仍然有限。 DSD 的护理工作因研究议程分散和缺乏标准化而受到阻碍，导致基本 DSD 病理学知识的差距以及治疗方案和预期结果之间的联系。障碍包括对病理生理学的理解存在差距（妨碍精确的诊断分类）、缺乏对社会心理结果及其潜在调节影响的前瞻性纵向研究生物医学、社会心理和法律因素对医疗决策的影响。该项目是全球首个前瞻性研究 DSD 诊断可变途径的项目心理社会适应的临床管理将通过利用来实现。 DSD 转化研究网络 (DSD-TRN) 的基础设施和强有力的协作。由全国 12 个跨学科医疗团队与患者组成的联盟组成利益相关者和生物伦理学代表。我们的指导原则是诊断和治疗方案的循证标准化将与较高的 DSD 确诊率、临床实践中的变异减少、增强的患者/家人的医疗保健相关体验，以及改善患者及其患者的心理社会结果拟议的项目将提供将 DSD 的医疗保健质量提高到一定水平所需的证据。观察其他罕见疾病的具体目标包括： 1. 改进和扩展DSD的分子诊断； 2. 识别与相关的诊断、临床护理以及家庭风险和复原力因素。 DSD 患者及其家人的心理结果存在差异； 3. 确定临床管理的生物医学、法律和心理社会决定因素。临床管理决策。