Growing up with Disorders of Sex Development (DSD): Critical Developmental Issues for Children and Families Affected by DSD

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.

More Information


Liz Wehr, Office of Science Policy, Analysis, and Communications, OD, NICHD
Phone: 301-496-0805

Please note: Views expressed during NICHD-sponsored events do not necessarily reflect the opinions or the official positions of NICHD, NIH, or HHS.
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