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

性发育障碍/差异 (DSD) - 转化研究网络

• 批准号: 10379331
• 负责人: DAVID Eric. SANDBERG
• 金额: $ 71.32万
• 依托单位: UNIVERSITY OF MICHIGAN AT ANN ARBOR
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-07-15 至 2025-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10379331
• 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; Genitalia; 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; 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; gender minority group; health care disparity; health care quality; health disparity populations; 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

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.

项目摘要 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、性腺或解剖学上的性别发育是非典型的。DSD在表型上是异质的， 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的集体发病率约为1%，可导致严重的生育后果，癌症风险 和生命质量的影响。关于临床管理的争论，特别是性别分配和 生殖器或性腺手术的数量有所增加，但最佳做法的科学数据仍然有限。临床 DSD中的护理受到分散的研究议程和缺乏标准化的阻碍， DSD病理学知识的差距以及治疗方案与预期结果之间的联系。主要 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）， 缺乏对心理社会结果的前瞻性纵向研究，以及潜在的调节影响 生物医学、心理社会和法律的因素对医疗决策的影响。 该项目是全球首个前瞻性研究DSD诊断的可变途径的项目 和临床管理来适应社会心理。这一目标将通过利用 基础设施和DSD-转化研究网络（DSD-TRN）的强大合作。网络 包括一个由全国12个跨学科医疗团队组成的联盟， 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是 与明确诊断的DSD率较高相关，临床实践中的变异减少， 患者/家庭医疗保健相关经验，改善患者及其 家庭拟议的项目将提供所需的证据，以提高渠务署的医疗保健质量， 观察其他罕见疾病。具体目标包括： 1.遗传学完善和拓展DSD的分子诊断; 2.心理社会学。确定与糖尿病相关的诊断、临床护理、家庭风险和恢复力因素 DSD患者及其家属心理结局的变异性; 3.临床管理的决定因素。确定生物医学、法律的和心理社会的决定因素， 临床管理决策。