hrp0086rfc9.1 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Neonatal Diabetes due to NKX2.2 Mutation – Genotype, Clinical Phenotype and Therapeutic Challenges in a Very Low Birth Weight Diabetic Neonate

Auerbach Adi , Shlomai Noa Ofek , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Zangen David

Background: Insulin treatment in a very low birth weight neonate having persistent hyperglycemia is challenging. The very recently reported novel human genetic cause of neonatal diabetes due to NKX2.2 pancreatic transcription factor mutations is associated with very low birth weight deliveries.Objective and hypotheses: To study the diagnostic process, the molecular genetics, the clinical phenotype, and the significant therapeutic challenges in the manage...