hrp0098fc15.3 | Late Breaking | ESPE2024

Assessment of actionable secondary genetic findings in a large cohort of children with short stature

Carneiro Rezende Raissa , Liberatoscioli Menezes de Andrade Nathalia , de Polli Cellin Laurana , Maria Santillan Ana , da Cunha Scalco Renata , Augusto de Lima Jorge Alexander

Introduction: Genetic investigation in patients with short stature allows diagnostic definition and impacts therapeutic decisions, clinical follow-up, and genetic counseling. That said, next-generation sequencing has created a new clinical challenge by allowing the identification of findings unrelated to the complaint that prompted testing. The ACMG published a list of actionable incidental findings that includes genes whose variants should be reported to pati...