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

impe0096ep24 | Diabetes and Insulin | IMPE2023

Neonatal Diabetes Mellitus in infant due to insulin gene mutation.

Pino Consuelo , Sanchez Paulina , Linares Jeannette , Letelier Yasmina , Alvarado Claudia , Molina Carolina , Muñoz Daniela

Neonatal Diabetes (ND) is a rare genetic disease (1 in 90,000 live births); most cases will be diagnosed before 6 months of age. The third cause by frequency, is mutations of the insulin gene (INS); the majority are heterozygous mutations affecting the structure of preproinsulin; these are transmitted in an autosomal dominant manner.Clinical case: Third Child of non-consanguineous parents, male, controlled pregnancy at high obstetri...