ESPE Abstracts

Background: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with severe malabsorptive diarrhea and certain endocrine abnormalities.Objective and hypotheses: To date, only 13 subjects with PC1/3 deficiency have been reported, now we want to report a new patient who was diagnosed PC1/3 deficiency with novel PCSK1 mut...

Background: Hashimoto’s thyroiditis (HT) is an autoimmune-mediated disorder, and is the most common cause of thyroid disease and acquired hypothyroidism in children and adolescents. In adults with HT, concentration problems, memory disorders and an increased rate of depression have been reported.Objective and hypotheses: To investigate, whether children and adolescents with HT have more behaviour and emotional problems, and/or lower intelligence tha...

Introduction: HNF1A-MODY (MODY3) is a common subtype of the Maturity Onset Diabetes of the Young (MODY), a monogenic autosomal dominant disease presenting as a nonketotic diabetes with onset usually during adolescence, or early adulthood. HNF1A-MODY is less common among children as the hyperglycaemia usually manifests after 10th year of life.Aim: We describe a young girl presented with hyperglycaemia and glysosuria.<...

Background: Copeptin is secreted in isomolar amounts along with arginine vasopressin peptide from the posterior pituitary. Its stability makes it a perfect candidate for the endocrine approach in the diagnosis of AVP deficiency. Arginine-stimulated copeptin is a possible alternative for the water deprivation test. We wondered whether basal and stimulated copeptin secretion is related to growth hormone secretion status or independent of it.<p class="abstext...

Background: Nutrient deprivation during early development has been associated with the predisposition to metabolic disorders in numerous epidemiological studies. Experiments with rodents also indicate a developmental plasticity of neuropsychological characteristics following alterations of early postnatal nutrition.Objective: Considering its interaction with metabolism and regulation of appetite and behavior, the endocannabinoid system (ECS) may represen...

Background: Lipid profiles of type 1 diabetic children are influenced by age, sex, BMI- and HbA1c-values. There is a discrepancy between increased cholesterol levels and the management required. Thus, 26% of patients have dyslipidemia but only 0.4% of them receive lipid lowering medication.Objective and hypothesis: To facilitate child-specific and diabetes-related cholesterol control, we developed a monitoring algorithm derived from population-based refe...

Background: Non-high-density lipoprotein cholesterol (non-HDL-C) has been shown to be a suitable predictor of cardiovascular risk.Objective and hypotheses: We aimed to investigate factors influencing non-HDL-C levels in children with type 1diabetes (T1D, registered at the German/Austrian DPV database, n=26358) in order to increase the rare use of lipid-lowering therapies. Recommendations for acceptable (<120 mg/dl), borderline-high (120&#150...

Background and Aim: Despite the broad individual variation of pubertal maturation, references traditionally describe growth in relation to just chronological age and not biological age. Hence, growth references for the adolescent period have been of limited usefulness for monitoring individual growth in clinic and for research. Especially for children and adolescents with chronic diseases is there a need to better evaluate if changes in SD-scores just before a...

Background: Since growth patterns change with time due to secular changes, there is a need to regularly update growth references1. We developed the first continuous birth size reference, from gestational age 24weeks with infancy growth references2, computerized 2006 and used in Swedish health care settings and neonatal units. We now aimed to update this reference by exchanging GrowUp1974Gothenburg cohort to a selected population of health...

Objective: Patients with congenital adrenal hyperplasia (CAH) seldom achieve their target height. Early adrenarche may accelerate bone age maturation and affect adult height. The QEPS-growth-model have been used for developing growth references and investigating healthy/pathological growth, however, not before used in individuals with endocrine disorders. This study aimed to evaluate growth patterns in CAH-patients with the QEPS-model.<s...