Transforming Turner Syndrome Care at Children’s National- Children's National

"Our mission has been to support and empower every child with Turner syndrome to achieve their full potential," says Roopa Shankar, MD, MS, director of the Turner Syndrome Clinic at Children's National Hospital. "This means we not only want patients and their families to receive supportive care through the clinical program at current standards of excellence, but also to partner with the community in advancing research and innovative treatments in pursuit of optimizing care throughout their lifetime."

This philosophy of blending research into clinical practice has shaped the approach to Turner Syndrome care at Children's National, bridging current knowledge with the needs of patients as they grow into adulthood.

This May, the American Journal of Medical Genetics published a special issue focused on Turner syndrome, featuring two contributions from Dr. Shankar. "Evolution of Health Care in Turner Syndrome" provides a timeline perspective on how far treatment has advanced, while "Growth and Growth-Promoting Treatments in Turner Syndrome" examines current evidence-based approaches to growth management. Dr. Shankar also served as a collaborator for the recently updated Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome. These updated international guidelines offer a valuable framework to ensure patients receive care aligned with the latest evidence and expert consensus.

The team at Children's National is actively exploring what comes next in Turner Syndrome care. Dr. Shankar is currently leading a phase 2 trial investigating vosoritide for treating Turner syndrome - this pioneering effort in the field is the first study in the world to treat Turner syndrome with vosoritide. Children's National was also the first clinical trial site in the world to study vosoritide for hypochondroplasia. "I'm excited that it offers new avenues and options for families while advancing the field," said Dr. Shankar.