ESPE Abstracts

Introduction: Congenital disorder of glycosylation type-1a is a multi-system disease involving neurological, gastrointestinal, ophthalmologic, cardiac or endocrine systems. In addition to hypothyroidism and hypergonadotropic hypogonadism, rare occurrences of hyperinsulinemic hypoglycemia in CDG patients have been reported. In the present report, we describe a patient diagnosed with CDG type-1a accompanied by hyperinsulinemic hypoglycemia, and whose responsive to diazoxide....

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...