hrp0082p2-d3-620 | Turner Syndrome | ESPE2014

Turner Syndrome: Analysis of Changes in the Age at Diagnosis and Phenotypic and Genotypic Description of 174 Patients

Auger Julie , Oussalah Abderrahim , Lambert Laetitia , Vigneron Jacqueline , Jonveaux Philippe , Leheup Bruno

Background: Turner syndrome, characterized by complete or partial absence of second sexual chromosome, is responsible for phenotype of variable severity.Objective and hypotheses: The main objective of this work is to describe the evolution of the age at diagnosis of Turner syndrome over time. We also performed a phenotypic and genotypic description and we assessed evolution over time.Method: It is a monocentric descriptive observat...