ESPE Abstracts

Here we identified and characterized a heterozygous tandem duplication at the ASIP (agouti-signaling protein) gene locus causing ubiquitous, ectopic ASIP expression in a female index patient with extreme childhood obesity. In patient-derived adipose tissue samples, we observed pronounced differentiation of stroma-vascular fraction (SVF) cells into adipocytes in the patient compared to normal control cells. We further found reduced mitochondrial maximum respir...

Obesity presents a major worldwide challenge, due to its numerous, severe adverse effects on health. This leads to a necessity to further investigate the mechanisms underlying lipid accumulation. The adipocytokine leptin may contribute to this process. While there already has been thorough research into central leptin action, deepening our understanding of leptin’s effects on whole-body energy homeostasis, relatively little is known about its auto- and paracrine effects....

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...

Background: Growth charts provide excellent help to the pediatric team in identifying abnormal growth patterns. However, the evaluation is highly dependent on the skills of the clinician. A computerized automatic screening system will add quality and patient safety in finding children with disorders affecting growth. Such screening system has been developed and tested in Finland and resulted in earlier detection of growth disorders1-3.Aim: To ...

Background: Pubertal tempo of breast development on natural sex-steroid replacement therapy in girls with multiple pituitary hormone deficiencies (MPHD) and pubertal growth spurts on adequate GH-treatment regimens were unknown in 1989 and are still not known.Objective and Hypotheses: A hypothesis driven prototype trial1,2 was initiated in the late 80ies aiming to mimic normal puberty regarding both pubertal ma...

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

Background: That mortality is not increased in rhGH-treated patients when adjusting for birth characteristics was recently published (1). When applying a developed mortality model of the general population, the observed and expected deaths in rhGH-treated IGHD, ISS and SGA patients (n=3847) where 21 and 21.99, respectively. The model includes gender, age, calendar year, gestational age (GA), birth lengthSDS (BLSDS), birth weightSDS (BW...

Background: Very low birth weight (VLBW) infants tend to have slower postnatal growth than the fetuses of the same gestational age (GA)1. Higher nutrient intake and better early growth are associated with better neurocognitive outcomes; excessive nutrient intakes may lead to metabolic consequences. Nutrient intakes for optimal growth, body composition and neurodevelopment are not known.Objectives: To assess gr...

Background: Lifestyle interventions show a long lasting weight reduction in only 10–20% of obese children and adolescents. Leptin as one major player within the central regulation of food intake and energy expenditure is most likely to mediate the endogenous drive for weight regain.Objective and hypotheses: To estimate weight regain after weight loss and the role of leptin in regain.Method: We included 153 obese children/adole...

Background: In addition to its function in circadian rhythm Melatonin plays an important role in energy metabolism and body weight regulation. In animals pinealectomy induces insulin resistance and administration of melatonin to diabetes prone rats ameliorates their glucose metabolism. Furthermore loss-of-function mutations of the melatonin receptor gene are associated with insulin resistance and DM II in humans.Objective and hypotheses: So far the effec...