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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：
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
项目类别：
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

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.

项目总结