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

From research to reality: Transforming Turner Syndrome care at Children’s National
Endocrinology

“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.

Advancing research

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.

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Redefining multidisciplinary care

Now in its sixth year, the Turner Syndrome Clinic at Children’s National, is ranked as a Level 4 center by the Turner Syndrome Global Alliance (TSGA), this is the highest tier designation and is given to only nine hospitals across the country.

Care often begins before birth. When expecting parents are referred to the Zickler Family Prenatal Pediatrics Institute (PPI) with a confirmed Turner Syndrome diagnosis, a systematic approach and timeline for prenatal screening and counseling are activated. Parents meet with Dr. Shankar and Tucker Pyle, MD, PhD, a medical geneticist, to discuss prenatal needs, delivery planning and recommended cardiology testing during the neonatal period. Following birth, the PPI team coordinates directly with the TS Clinic to schedule the first appointment and initiate a comprehensive treatment plan.

This kind of collaboration and integration continues throughout care. Oftentimes, when the word “multidisciplinary” is used in medicine, it still involves juggling the logistics of many separate appointments. The TS Clinic at Children’s National has worked to streamline what a multidisciplinary clinic means for patients and their families. Patient families have access to all the specialists they need for care and see all five main disciplines on the same day.

Building community: For patients and research

Dr. Shankar points at an image on a computer
Dr. Shankar says the clinic is also a source of community for patient families. This summer, the team hosted its first TS community day event, which allowed patients and their families to meet and get to know other families with a TS diagnosis and to connect with experts from their care team in an informal setting. Many parents gave feedback that having that setting and open lines of communication was beneficial.

The work being done at Children’s National reflects a broader truth about rare disease care: innovation requires collaboration that extends beyond a single institution’s walls, and the success of these efforts aim to help children with TS everywhere. To facilitate this kind of ongoing research, Dr. Shankar is the Children’s National site lead for the InsighTS Registry, a creative effort designed to generate new scientific insights to guide healthcare in Turner Syndrome.

“Participating in collaborative research through registries and the rare disease consortium is ‘team science at its best!’. It affords a unique opportunity for all stakeholders: the community, clinicians and researchers to build on a shared vision of patient-centered research, incorporating diverse expertise and perspectives,” adds Dr. Shankar.

Dive Deeper

Poster presentation at the Pediatric Endocrine Society annual meeting

Encouraging early results for vosoritide in Turner syndrome

May 23, 2025

In the world’s first clinical trial of vosoritide for Turner Syndrome, preliminary results show an increase in annualized growth velocity.

Raising awareness about Turner Syndrome

February 10, 2021

Turner syndrome is a rare disease affecting girls and is caused by partial or complete loss of the second sex chromosome.

Clinic Level 4 Regional Resource Center Badge

Turner Syndrome Clinic designated as Level 4 Regional Resource Center

October 26, 2020

The Children's National Turner Syndrome Clinic was recognized by the Turner Syndrome Global Alliance as a Level 4 Regional Resource Center.

First Washington-based Turner syndrome clinic opens Jan. 28

January 11, 2019

Starting on Monday, Jan. 28, Children's National Health System will host a monthly clinic for girls with Turner syndrome. Patients can now meet with a multidisciplinary team--including a cardiologist, endocrinologist, gynecologist, psychologist, geneticist and other specialists--in one annual visit.

From research to reality: Transforming Turner Syndrome care at Children’s National

Advancing research

Redefining multidisciplinary care

Building community: For patients and research

Dive Deeper