Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096fc4.3 | Growth and Syndromes | IMPE2023

Diagnostic yield of a multigene approach in children with short stature of unknown cause: It is time to remove the term idiopathic!

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Dantas Naiara , Rezende Raissa , Cellin Laurana , Homma Thais , Lucheze Bruna , Lerario Antonio , Arnhold Ivo , Vasques Gabriela , Jorge Alexander

Introduction: The genetic factors are frequently implicated in the growth impairment of short stature (SS) children, whether they are syndromic or apparently healthy. However, the investigation recommended by the consensus fails to establish the etiology in most cases. The difficulty to search for candidate genes increases the importance of using a hypothesis-free approach as whole exome sequencing (WES) for these children. Objective: To determine the diagnost...