Jenny Lam, Sophie Stoppa-Vaucher, Maria Cristina Antoniou, Thérèse Bouthors, Inge Ruiz, Nicole Sekarski, Tobias Rutz, Sophie Fries, Pierre Alain Binz, Florence Niel Bütschi, Nicolas Vulliemoz, Aneta Gawlik, Nelly Pitteloud, Michael Hauschild, Kanetee Busiah
INTRODUCTION: Turner syndrome association with multi-organ system comorbidities highlights the need for effective implementation of follow-up guidelines. We aimed to assess the adequacy of care with international guidelines published in 2007 and 2017 and to describe the phenotype of patients. 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...
2023: Frontiers in Endocrinology