Endocrine Abstracts

The highly conserved Leptin-Melanocortin signaling pathway plays a central role in the regulation of body weight and energy expenditure. Mutations in POMC and MC-4R lead to dosage dependent monogenetic obesity. However, several evidences suggest an epigenetic impact on the regulation of body weight. Moreover it has been shown recently that variants of the FTO gene, which affects ss DNA methylation in the arcuate nucleus, correlate with increased body weight in children and adu...

Objective: The NKX2-1 gene, also known as TITF-1, TTF-1 or T/ebp, is a member of the homeodomain-containing NK-2 transcription factor gene family and expressed in early development of thyroid, lung and forebrain. Initial screening of patients with isolated congenital hypothyroidism failed to show mutations. The first human heterozygous deletion affecting the NKX2-1 gene to be reported was a neonate with respiratory failure, primary hypothyroidism and neurological signs matchin...

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...