hrp0098p2-365 | Late Breaking | ESPE2024

The Diagnostic Yield of Exome Sequencing in Idiopathic Short Stature

Aljazaeri Sara , Alrubeh Zahra , Alabdi Lama , Alhuthil Raghad , Alsagheir Afaf , Alkuraya Fowzan

Background: Most children with short stature (SS) remain without a clear diagnosis despite extensive workup and are thus classified as idiopathic short stature (ISS). Whole exome sequencing (WES) in particular, has become a revolutionary approach in identifying monogenic causes of growth disorders. Therefore, this study aims to determine the diagnostic yield of WES in identifying the genetic etiology in children with ISS.Methods:...