The Cincinnati Center for Pediatric and Adult Turner Syndrome Care is the largest Turner syndrome center in North America, and follows more than 250 patients from all around the world. Center Director and pediatric endocrinologist Philippe Backeljauw, MD, talks about recently published international clinical practice guidelines, which have the potential to transform care for individuals with this genetic disorder.

How would you characterize the quality of care available for patients with Turner syndrome?

Worldwide there is an overwhelming lack of appropriate, evidence-based care for patients with Turner syndrome. Many patients receive substandard care, and the morbidity and mortality rates are higher than they should be in this day and age.

Was that the impetus for the clinical guidelines you helped develop?

In 2016, Dr. Claus Gravholt, an endocrinologist in Denmark, and I co-chaired a three-day symposium in Cincinnati that brought together about 65 Turner syndrome expert clinicians and researchers from around the world. The meeting was funded by external organizations, including the National Institutes of Health, the Cincinnatus Foundation for Research and Education on Turner Syndrome, advocacy groups and several medical societies.

Our goal was to develop an all-inclusive set of clinical guidelines addressing every aspect of Turner syndrome care. We worked in subgroups to address diagnostic and genetic issues; growth and development during childhood and adolescence; congenital and acquired cardiovascular disease; transition and adult care; and other comorbidities and neurocognitive issues. Each group reviewed the available literature and, over the next 18 months, developed detailed recommendations. When there was not enough supporting literature to provide back-up verification, they relied on clear expert consensus.

In September 2017 we published the guidelines, and have been presenting them at professional meetings and advocacy group meetings ever since. If providers follow these practice guidelines, patients with Turner syndrome of all ages will receive consistent, appropriate care for the many medical and neurocognitive issues they face.

Can patients and families access these recommendations?

Yes—the full text is available on PubMed.com. But we also created a patient/family version. It is about 15 pages long, and available in English and Spanish. View and download a PDF of the guidelines.

We encourage patients to share the guidelines with their primary care provider or endocrinologist. Our hope is that this will empower patients to get the surveillance and treatment they need, especially during adulthood when so many are lost to appropriate care.

The clinical care guidelines appeared in the European Journal of Endocrinology.