Disorders of Sex Development: Platform for Basic and Translational Research

Faculty Contact: David E. Sandberg, PhD

Background:
Disorders of Sex Development 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 are extremely stressful for parents and, as they grow older, the affected person and are often accompanied by additional medical and psychological problems; yet little is known about the causes of DSD and what healthcare teams should do in the short and long term. 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. Identify novel genetic mechanisms of sex development and improve understanding of the pathophysiology and molecular diagnosis of DSD.
  2. Deliver standardized tools for reliable phenotypic descriptions across multiple study sites and investigators, including radiological, biochemical, histological evaluations and descriptions of genital phenotype and postsurgical appearance and function, facilitating interpretation of genetic, gender, and quality of life outcomes.
  3. Identify short and medium-term outcomes by delivering a comprehensive psychosocial and health-related quality of life assessment battery using psychometrically robust measures suitable for use in routine clinical care.
  4. Build a sustainable research infrastructure that ensures rapid translation of new evidence into ongoing clinical practice by integrating standardized DSD diagnostic and treatment protocols and fostering the transfer of best practices in healthcare delivery across network sites.

This unique combination of genetic, phenotypic and psychosocial approaches will transform participating sites into self-sustaining DSD "centers of excellence" for clinical care along with the added value of a registry serving as a critical resource for hypothesis-driven research.

Research Topics & Methods:
This NIH-funded project (R01 HD068138) establishes an infrastructure, including a patient registry, 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 will include 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).

For more information, please contact:
David E. Sandberg, PhD
Professor and Director, Division of Child Behavioral Health
Department of Pediatrics and
Child Health Evaluation and Research (CHEAR) Unit
University of Michigan
300 North Ingalls Building, Room 6D18
Ann Arbor, MI 48109-5456
Telephone: (734) 647-8100 Fax (734) 936-6897
Email: dsandber[at]med.umich[dot]edu