ESPE Abstracts

Background: Several methods have been used to evaluate the risk of cardiovascular diseases in obese children. Both BMI and waist-to-hip ratio were suggested as risk factors. However, they did not prove to estimate the risk for cardiovascular events in adulthood. Recent studies suggest that the ratio of waist circumference to body height (WHtR) is a more reliable predictor for cardiovascular risk in 6-10-year old children (Kuba et al. 2013).Objec...

Background: Mutations in more than 20 genes are described to cause monogenic diabetes. Nevertheless, numerous families with diabetes of unknown ethology and suspected genetic defect have no molecular diagnosis. This not only impedes our understanding of disease mechanisms but also prevents from predicting the clinical course of the patients and applying the pathogenesis-oriented treatment.Objective: To identify novel gene(s), causing monogenic adolescent...

Background: Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and is predominantly caused by developmental abnormalities known as thyroid dysgenesis (TD). Several transcription factors have been described in its aetiology, but defects in the known genes only account for a small proportion of cases.Methods: To identify novel genes involved in TD, we performed exome sequencing in 7 unrelated ...