Endocrine Abstracts

Endocrine fetal therapies is currently performed in congenital adrenal hyperplasia due to 21-hydroxylase and 11 beta-hydroxylase deficiencies (CAH), hypothyroidism accompanied by large goiter and in thyrotoxicosis due to maternal autoantibodies. In CAH dexamethasone is administered to the mother 5–6 weeks p.c. to suppress the fetal hypothalamo-pituitary-adrenal axis. If the diagnosis is confirmed by chorionic villus or amniocentesis therapy is continued, while it is disco...

Obesity is a polymorphic chronic disease with epidemic prevalence. Furthermore, heritability of the weight phenotype is high. However, within the catabolic leptin–melanocortin signalling pathway, which is pivotal for body weight regulation, gene mutations are rare. This indicates that other, non-genetic heritable factors might play a role in the development of obesity, such as epigenetic mechanisms.In a candidate gene approach, we analyzed the funct...

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...

Background: SOX3, a member of the SOXB1 subfamily of transcription factors, is a single-exon gene located on the X-chromosome and expressed in neuroepithelial and progenitor cells from the earliest stages. In mice, its expression in the infundibulum is important for the correct induction of Rathke’s pouch morphogenesis, with loss of function resulting in defects of CNS midline structures, teeth misalignment and variable hypopituitarism. We have previously demonstra...

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...