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

Project start date and end date: September 2011 - March 2023

Background:
Disorders/Differences of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. One of the most defining moments of our lives is when, in the womb, we embark on a male or female path. Disruption of typical male or female development, whether mild or severe, results in DSD, which occur quite frequently, in about 1% of the human population. DSD can be experienced as extremely stressful for parents and, as they grow older, the affected person and are often accompanied by additional medical and psychological challenges; yet much remains unknown about the genetic causes of DSD and what constitutes “best healthcare practices” in the short and long term. This project We propose to design a way to learn about the genetic causes and the psychological consequences of DSD, and to use these data to provide healthcare teams with procedures to evaluate and improve care for these patients and their families.

Objectives:

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.

Research Topics & Methods:
This project establishes an infrastructure, including a patient registry and biobank, necessary to perform hypothesis-driven research on the mechanisms of sex development (anatomic and psychosexual) as well as their consequences for patient health-related quality of life and family adaptation. Registry data includes genetic data (sequence, copy number variants), phenotypic information (anatomy and function), reproductive health parameters (endocrine and fertility data), and medical and behavioral healthcare processes and outcomes data (hospital systems and medical record data, diagnostic labs, patient/parent-reported outcomes, etc).

Implications:
The guiding principle of this work 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 project will deliver evidence needed to raise the quality of healthcare in DSD to levels observed for other rare diseases.

Funder:
The project is funded by NIH R01 HD093450.

Collaborator:
Eric Vilain, Children’s National Medical Center (MPI)