More than 50 physicians representing endocrine societies on six continents convened in Denmark in June to update international clinical care guidelines for patients with Turner syndrome. The meeting was a follow-up to the inaugural Turner Syndrome International Conference held in Cincinnati in 2016, where participants developed the first set of international care guidelines for this rare condition.

Pediatric endocrinologist Philippe Backeljauw, MD, founding director of the Turner Syndrome Center at Cincinnati Children’s, co-chaired both conferences with Claus Gravholt, MD, PhD, an endocrinologist in Denmark who specializes in caring for adults with Turner syndrome. Three other pediatric endocrinologists from Cincinnati Children’s also played vital roles at the conference, contributing insights in areas including bone health, obesity and lifelong care. They included Iris Gutmark-Little, MD, current director of the Turner Syndrome Center; Sarah Corathers, MD; and Nicole Sheanon, MD. A pediatric cardiologist who provides care at the Turner Syndrome Center, Nicole Brown, MD, also took part.

A Year of Preparation

In the year preceding the conference, participants from around the world worked in subgroups to address every aspect of Turner syndrome care, including diagnostic and genetic issues, growth and development during childhood and adolescence, congenital and acquired cardiovascular disease, and transition and adult care, as well as other comorbidities and neurocognitive issues. Each group reviewed the available literature and developed detailed recommendations. When there was not enough supporting literature to provide back-up verification, they relied on clear expert consensus. The guidelines are expected to publish in the European Journal of Endocrinology in early 2024.

“Turner syndrome researchers have made significant progress since we published the first set of guidelines in 2016, especially in areas such as genetics, diagnostic practices, fertility treatments and cardiology care,” says Backeljauw. “Their work necessitated the follow-up conference, and we anticipate needing another one in seven to 10 years.”

Open Discourse and a Passion for Optimal Care

Each subgroup presented its data and recommendations to the larger group at the three-day conference. Sheanon served on the comorbidities subgroup, focusing her efforts on bone health and obesity, metabolism, diabetes and cholesterol. “One challenge in developing our recommendations was finding a balance between what the evidence says and what’s feasible in different countries based on their healthcare systems, established practices and available resources,” Sheanon says. “For example, I initially suggested that we recommend oral glucose tolerance tests every two years once girls with Turner syndrome are 18 to recognize and treat glucose metabolism issues and diabetes sooner,” she adds. “Colleagues from other countries said it would be challenging to follow the recommendation due to cost and resources. Ultimately, our recommendations included an explanation of the evidence with references, with the understanding that practitioners will add their own interpretation, providing care that makes sense in their own setting.”

Gutmark-Little, who led the transition subgroup, says the meeting was unlike any other she’s ever attended, with open discourse among people who share a passion for optimizing care and outcomes for girls and women with Turner syndrome. “There was fascinating discussion amongst the larger group during each presentation,” Gutmark-Little says. “People would explain why they agreed or disagreed with recommendations, or perhaps talk about how that recommendation might be implemented differently in their institution and country.”

An Emphasis on Lifelong Care

Corathers, who specializes in caring for adults with Turner syndrome, most appreciated the opportunity to think about what care looks like across the lifespan. “Girls and women with Turner syndrome experience multisystem concerns, so we have to think quite globally about issues that range from hearing and neurocognition to autoimmunity, hormone replacement and cardiovascular health,” she says. “That’s why it’s so important for patients to receive care from many specialists within the healthcare system. We hope the clinical care guidelines help them and their providers understand and follow screening and prevention recommendations, which can be somewhat complex.”

The guidelines include an executive summary and are available on PubMed. Lay versions will be published later this year (in English and Spanish) for patients to share with their primary care provider or endocrinologist. To learn more, contact Iris.Little@cchmc.org.