ESPE Abstracts

Turner syndrome affects about 50 per 100,000 females and impacts multiple organs throughout all stages of life, necessitating multi- or interdisciplinary care. The 2017 international Turner syndrome clinical guidelines document provides practical recommendations to help clinicians in delivering optimal care to individuals with a diagnosis of Turner syndrome. These clinical guidelines were recently reviewed during a 2023 consensus meeting and updated evidence-based recommendations for the management of girls and women with Turner syndrome are now available. These updated guidelines extend the previous ones to include new advances particularly with respect to the genetic diagnosis, estrogen/progestin replacement, fertility care, co-morbidities treatment, and neuropsychological problems. During the Turner syndrome working group symposium we will specifically discuss some of the changes in clinical practice guidelines for the diagnosis and for the co-morbidities monitoring in Turner syndrome individuals. This will cover topics including non-invasive prenatal testing, evaluation and management of individuals with Y-chromosome material, screening for malignancy, evaluation of hearing difficulties, assessing glucose intolerance, and abnormal uterine bleeding. An overview of suggested planning for outpatient follow-up will be provided. Finally, although many advancements in the care of Turner syndrome individuals have been made, the collective effort to collate evidence to inform the clinical practice recommendations also highlighted many knowledge gaps that still need to be addressed.