Endocrine Abstracts

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...

Introduction: Stimulated serum C-peptide (sCP) during a mixed meal tolerance test (MMTT) is the gold standard measure of endogenous insulin secretion in Type 1 diabetes (T1D). However invasiveness of sampling, the need to discontinue insulin prior to testing and rapid processing of samples limits its widespread use, particularly in children. Practical alternatives would increase utility.Aims: To assess if in a MMTT: 1.It is necessary to omit insulin. 2. ...

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...