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.

项目摘要性别发展的疾病/性别差异（DSD）是涵盖先天性条件的伞，染色体，性腺或解剖学性发展是非典型的。 DSD在表型上是异质的，从生殖器畸形（Hypospadias，隐脚菌，阴蒂肥大）到生殖器模棱两可的范围。 DSD的集体事件约为1％，可能会对生育，癌症风险造成严重后果整个生命周期的生活质量。关于临床管理的辩论，尤其是性别分配和生殖器或性腺手术受到了启发。然而，告知最佳实践的科学数据仍然有限。临床 DSD中的护理受到零散的研究议程和缺乏标准化的阻碍 DSD病理学知识以及治疗方案与期望结果之间的联系差距。主要的障碍包括理解病理生理学（阻碍精确诊断类别）的差距，缺乏对社会心理结局的前瞻性纵向研究，潜在的调节影响关于医疗决策的生物医学，社会心理和法律因素。该项目是全球第一个此类项目，可以前瞻性地研究DSD诊断的可变途径和对社会心理适应的临床管理。这个目标将通过利用 DSD - 翻译网络（DSD-TRN）的基础架构和稳健的合作。网络由全国各地的12个跨学科医疗团队组成的财团与患者结合利益相关者和生物伦理代表。我们的指导原则是，诊断和治疗方案的基于证据的标准化将是与较高的明确诊断DSD率相关，临床实践的变化减少，增强患者/家庭医疗有关的经验，并改善了患者及其患者的社会心理结局家庭。拟议的项目将提供所需的证据，以提高DSD的医疗保健质量观察到其他罕见疾病。具体目的包括： 1。遗传学。改善和扩展DSD的分子诊断； 2。社会心理。确定诊断，临床护理以及家庭风险以及与 DSD患者及其家人的心理结局的变化； 3。临床管理的决定因素。识别生物医学，法律和社会心理决定者临床管理决策。