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

impe0096p50 | Diabetes and Insulin | IMPE2023

Congenital diarrhea and diabetes due to NEUROG3 mutation: report of 2 cases

Arriaza Marta , Soledad Villanueva Maria , Schoen Kathrin , Gallardo Vivian , Francisca Ugarte Maria , Sepulveda Carolina , Puchi Alexa , Yizmeyian Anahi

Introduction: Neurogenin-3 (NEUROG3) is a key transcription factor expressed in endocrine progenitor cells and is necessary for the development of endocrine cells in the pancreas and intestine. Its homozygous pathogenic variants cause an autosomal recessive disorder characterized by congenital malabsorptive diarrhea due to paucity of enteroendocrine cells and diabetes which occurs from the neonatal stage to school age.Objectives:...