ESPE Abstracts

Introduction: Turner syndrome (TS) association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess 1/ the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients; 2/ the effectiveness of our transition program.

Methods: In this multicenter retrospective descriptive cohort study, we collected growth and pubertal parameters, associated comorbidities, treatment, and karyotype in patients diagnosed at age <18 years between 1993 and 2022. We assessed age-appropriate recommendation follow-up (children, adolescents and adults) according to the 2007 guidelines if the last visit was before 2017 (18 recommendations) and the 2017 guidelines if the last visit was after 2017 (19 recommendations).

Results: We included 68 patients followed at Lausanne University Hospital (n=64) and at Neuchatel Regional Hospital (n=4). 2.9% of patients underwent all recommended investigations. Overall, 68.9 ± 22.5% and 78.5 ± 20.6% of the recommendations were followed, before and after 2017, respectively. The recommendations with the highest implementation rate were height, weight, BMI (100%), and cardiac (range: 80 to 100%) and renal (range: 90 to 100%) imaging. The recommendations with the lowest implementation rate were Ear, Nose and Throat (ENT) (56.5%), skin (38.5%), dental (23.1%), ophthalmological (10%), and cholestasis (0 to 29%) assessments, depending on age and time of visit. In children (n=13), the overall mean proportion of recommendations followed was 75.5 ± 19.1%. In adolescents (n=22), we found no difference between overall followed recommendations for patients last seen before 2017 compared to patients last seen after 2017 (76.6 ± 15.1% vs. 80.9 ± 18.3%, P=0.306). In contrast, in adults (n=33), the mean proportion of followed recommendations was lower before than after 2017: 63.5 ± 25.8% vs. 78.7 ± 23.4%, P=0.039.

Conclusion: Growth parameters, cardiac assessment and renal ultrasound are well followed up. However, efforts should be made for dental, ENT, ophthalmological, skin and cholestasis assessments. Adequacy of follow-up improved with the quality of transition to adult care.