ESPE Abstracts

Introduction: Early onset diabetes mellitus (DM) presents a challenge in pediatric clinical settings, often necessitating comprehensive genetic investigation to understand underlying causes and tailor management strategies. This study aimed to elucidate the genetic basis of early onset DM through whole exome sequencing and assess its clinical relevance.Methods: Between July 2022 and May 2024, we conducted a prospective s...

Introduction: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome is a rare condition characterized by symptomatic ACTH deficiency and primary hypogammaglobulinemia, caused by a heterozygous mutation in the NFKB2 gene (MIM#164012) on chromosome 10q24. We report the novel mutation of the NFKB2 gene in a Korean boy presenting with gait disturbance, calf pain, and abnormal thyroid function test.<s...