Endocrine Abstracts

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

Understanding how pancreatic beta-cells develop during human development is essential to advance current protocols aimed at developing insulin-producing beta-cells in vitro and highlight therapeutic targets for diabetes treatment. Identifying the single-gene mutations which result in individuals developing diabetes in the first 6 months of life (a condition called neonatal diabetes) has the potential to give unique insights into the genes regulating human beta-cells w...

Background and aims: Neonatal diabetes diagnosed before 6 months is caused by mutations that reduce. β cell number (reduced formation or increased destruction) or impair β cell function. We investigated the genetic cause of a syndrome characterised by neonatal diabetes, microcephaly and epilepsy.Materials and methods: We performed whole genome sequencing for two unrelated patients with neonatal diabetes, epilepsy and microcephaly. Replication s...

Objective: Neonatal diabetes is caused by single gene mutations reducing pancreatic β-cell number or impairing β-cell function. Understanding the genetic underpinnings of rare diabetes subtypes highlights fundamental biological processes in β-cells. Our aim was to explore the genetic basis of a syndrome characterized by neonatal diabetes, microcephaly and epilepsy.Methods: We performed whole genome sequencing for 2 unrelated patients with ...