Endocrine Abstracts

Background: Childhood obesity is increasing worldwide and presents as a global health issue due to multiple metabolic comorbidities. About 1% of adolescents with obesity develop type 2 diabetes (T2D), however little is known about the genetic background in young age. The objective of this study was to assess the prevalence of impaired glucose regulation (IGR) in a large cohort of children and adolescents with obesity and to characterize insulin sensitivity and insulin secretio...

Background: Neonatal diabetes (ND) is a rare, mostly sporadic disorder diagnosed within the first 6 months of life that can either be transient or permanent. We report on a family of four phenotypically heterogenous subjects with ND characterized by a new heterozygous missense mutation (D212I) in exon 5 of the ABCC8 gene encoding the SUR1 subunit of the KATP channel.Patients: In each of small-for-gestational-age (SGA) female monocygous twins, ...

Objective: MODY5 is caused by abnormalities in the TCF2 gene encoding the transcription factor HNF1β. We investigated cases of MODY5 for the underlying type of TCF2 anomaly.Case presentations: From 623 children and adolescents with diabetes mellitus followed at our diabetes clinic in 2006, 64 were negative for islet cell autoantibodies (GAD, IA-2, ICA) within the first year of diagnosis and out of these, four patients presented clinica...