March 26-27, 2014
Child Development and Behavior Branch (CDBB), Division of Extramural Research (DER), Division of Intramural Research, and Office of the Director (OD), NICHD; Office of Rare Diseases Research, National Center for Advancing Translational Sciences, NIH
Natcher Conference Center (Building 45), NIH Main Campus, Bethesda, Maryland
Approximately one of every 4,500 children is born with a variation in chromosomal, gonadal, or anatomical makeup that may make it difficult at birth to determine the infant's sex, or that may not become symptomatic until puberty. These differences or DSDs have important developmental and medical ramifications and may affect gender of rearing as well as health, quality of life, and family functioning during the child's infancy, childhood, adolescence, and adulthood. Yet little is known about the short- and long-term outcomes of newer surgical and hormonal interventions or decisions to forego these interventions. Even less is known about the impact of DSD on the child during different periods of development and on the child's family; these impacts can have important implications for the timing and nature of clinical decisions as well as child, adolescent, and adult health and well-being and family functioning.
The workshop gathered a multidisciplinary group of clinical and research experts who described and discussed: a) current knowledge of the etiologies of DSD as well as current clinical care and counseling for affected children and adolescents and their families; b) important knowledge gaps and research needs (including clinical infrastructure and research resources) ultimately needed to better inform all aspects of care for affected individuals and families; and c) specific research questions to advance the field.
Participation was by invitation only.
In May 2015, Hormone and Metabolic Research published a special DSD issue that reflected the presentations and discussion from the workshop. The Overview is provided below, as well as the table of contents and the cover for the issue. These items are provided with permission from the journal. PubMed offers article abstracts and links for this special issue.
In September, 2015, the NIH published a series of Requests for Applications (RFAs) that were informed by the RFI responses and the Workshop proceedings.
- NEW! Requests for Applications (RFAs) are now available—Multidisciplinary Approaches for Developmental Research with Individuals with DSD—for projects that address DSD-related issues including (but not limited to) one of the following areas: 1) improving the DSD diagnosis; 2) genitosurgery/gender assignment outcomes; 3) psychosocial and functional impacts on development of DSD individuals; 4) improving DSD clinical management; and 5) follow-up of DSD cohorts to establish treatment outcomes, cancer risks, and cancer-related health issues. We encourage applicants to discuss potential projects with the individuals listed in the “Scientific Research Contacts.” Application receipt date for all RFAs is December 9, 2015:
- Agenda (PDF - 451 KB)
- Meeting Summary (PDF - 364 KB)
- Responses to Request for Information (RFI) (PDF - 391 KB)
- From Hormone and Metabolism Research
- Freund et al. Developmental Focus on Disorders of Sex Development: Special Issue Overview (PDF - 309 KB)
- Special Issue Table of Contents (PDF - 156 KB)
- Cover (PDF - 196 KB)
Liz Wehr, Office of Science Policy, Analysis, and Communications, OD, NICHD