ESPE Abstracts

Background: Hyperglycaemia combined with hypertriglyceridaemia and non-alcoholic fatty liver, not directly related to Type 1 diabetes mellitus (T1DM,) is a rather uncommon metabolic disorder in children, which often evades early and accurate diagnosis. Even though considerable progress has been made in identifying some of the genes involved, the molecular basis of conditions presenting with hypertriglyceridaemia, deranged liver function and insulin resistance ...

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labeled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which...

Background: Clinical assessment of pubertal breast development using Tanner staging is subjective. This has led to the introduction of ultrasound, aiming for a more objective analysis. However, information regarding its reliability is lacking.Objective: To examine intra- and inter-observer agreement of breast maturity staging using ultrasound, and to examine the precision of direct measurements of the gland.Materials and methods: F...

Rapidly accumulating epidemiologic and experimental evidence has indicated that insufficient sleep, such as commonly experienced in modern societies by all age groups, reduces insulin sensitivity and impairs glucose metabolism in healthy adults, and increases the risk of incident type 2 diabetes. Studies in type 1 or type 2 diabetic adults show a link between reduced sleep quality or duration and poor glyceamic control. While poor diabetes control may impair sleep due to noctu...

Background: SWEET (www.sweet-project.eu) is a non-profit entity endorsed by ISPAD aiming to create an extensive network of certified CoRs for childhood diabetes in order to ensure high quality care.Objective and hypotheses: SWEET aims at an improved and more uniform care for people with diabetes through comparing processes and outcomes among participating members. The results of data analysis are conveyed to memb...

Background: Heat generation in UCP-1 active cells as present in brown adipose tissue contributes to the regulation of energy homeostasis. Brown adipose tissue is known to be present in neonates and infants and has recently also been demonstrated in children and adults. Interestingly, a transition of white adipocytes into a brown phenotype has been documented in vitro in mouse and human cells, yet the underlying mechanisms are still not resolved. Using transcriptome an...

Background: Poor glycaemic control, indicated by a high HbA1c level, increases the risk of developing complications of type 1 diabetes. It is, therefore important to reduce HbA1c levels aiming for the new target outlined by NICE (2015) of 48 mmol/mol. To try and improve HbA1c levels in patients attending a large urban diabetic clinic a policy was developed, targeting patients with an HbA1c level of 64 mmol/mol or higher.Objective and hypotheses: To asses...

Background: Costello syndrome may be associated with Hyperinsulinaemic Hypoglycaemia (HI), but this is usually a mild medically-responsive form.Objective and hypotheses: To describe the clinical characteristics, biochemical findings and challenging management of a case of Costello syndrome with severe HI.Method: Review of the patient’s medical records.Results: Male, born to non-consanguineous healthy par...

Background: Intra uterine growth retardation (IUGR) is well recognized to result in infants born small for gestational age (SGA). Early morbidity is followed by increased lifetime risks for health problems, particularly in the 10% of IUGR infants who fail to catch up. Risks include metabolic syndrome with obesity, insulin resistance, abnormal glucose metabolism, hypertension, dyslipidaemia, T2DM. Rapid weight gain in infancy is associated with increased incidence of later obes...

Background: Septo-optic dysplasia (SOD) is an important cause of hypopituitarism, although less common than multiple pituitary hormone deficiency (MPHD). Children with optic nerve hypoplasia (ONH) are at risk of hormone and neurocognitive disturbances.Objective and Hypotheses: We describe clinical and neuroradiological findings of these three overlapping conditions, aiming to understand their pathophysiology.Method: Retrospective a...