ESPE Abstracts

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

Growth hormone (GH) stimulates insulin like growth factor I (IGF I) release. IGF-I is the standard biomarker for monitoring GH effects during treatment and to achieve optimal long-term safety, and to a limited extent, monitor efficacy in children with GH deficiency (GHD). The IGF I profile during treatment with a long acting GH (LAGH), such as once weekly somapacitan (Novo Nordisk), differs from the daily GH profile by exhibiting larger peaks and troughs over the dosing interv...

Background: Current reference values for leptin in childhood and adolescence are presented separately for girls and boys, and as a function of age without considering the variability of fat mass. This complicates the interpretation of measured serum leptin concentrations since fat mass is the major determinant of circulating leptin concentrations. To fill this gap, we aimed at pooling existing data (age, BMI, sex, tanner stage (TS), serum leptin concentrations...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Growth retarded fetuses gestated by hypoxic pregnant animals may present increments of...

Introduction: Congenital hyperinsulinism (CHI) is the commonest cause of severe hypoglycaemia in early childhood but glycaemic characterisation remains scarce. Continuous glucose monitoring (CGM) offers a deep understanding of glycaemic control to understand disease burden, individualise patient care and inform therapeutic trials in CHI. Preliminary studies suggest inadequate accuracy and no efficacy of standalone CGM to reduce hypoglycaemia. Provision is hist...

Direct relationships of estimated birth brain weight(BRW) to birth body weight (BW) ratios (BBR) and of BW<=10.th centile for GA(SGA) with blood serum Insulin-like Growth Factor-II(IG2) to blood serum Insulin-like Growth Factor Binding Protein-3 (IB3) ratios (IG2/IB3R), and inverse relations between BW-SDS and birth chest circumference(CC) / BW ratio (i.e., CC through BW; CC/BWR) have been detected by our group in the human newborn(NWB). We evaluated the possibility that CC...

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...

Background: Heterogeneity in reported outcomes limits the ability to compare results of studies evaluating hypospadias surgery.Objective: To identify a core outcome set (COS), a minimal number of defined outcomes, to be routinely measured and reported in all trials across the age span following hypospadias surgery.Materials and Methods: A study protocol was drafted and the study re...

Background: Previously we showed that pubertal children born small for gestational age (SGA) with a poor adult height (AH) expectation can benefit from treatment with GH 1 mg/m2 per day (~0.033 mg/kg per day) in combination with 2 years of GnRH analogue (GnRHa) and even more so with a double GH dose. GnRHa treatment is thought to have negative effects on body composition and blood pressure. Long-term effects and GH-dose effects on metabolic health in children treate...