ESPE Abstracts

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...

Introduction: An activating mutations in the ABCC8 gene cause both transient and permanent neonatal diabetes mellitus (DM) or MODY 12. In relation to the variant in the ABCC8 gene, patients may also present with either neonatal hyperinsulinism and/or DM later in life. Besides, the same variant can cause different phenotypic features among family members. Response to the sulfonylurea treatment may vary between patients.<...

Background: Congenital hyperinsulinism (CHI) is a rare disorder, which causes persistent and severe hypoglycaemia in infants and children. CHI can be treated with glucagon, but long-term use is challenging owing to its instability in aqueous solution. Dasiglucagon, a stable glucagon analogue designed for long-term use as a subcutaneous continuous infusion, is in clinical development. Here, we present dasiglucagon safety results in participants treated for up t...

Introduction: Pediatric obesity is associated with an increased risk of serious long-term complications. Therapeutic failure is influenced by several factors, such as the high dropout rate. A retrospective study was conducted on a cohort of children and adolescents with essential obesity, in order to evalute (1)the average duration of a correct follow-up and the percentage of weight loss at the end of it, (2)the rate of drop-out, researching related factors.</...

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

Background: The BoneXpert method for automated determination of bone age from hand X-rays is based on machine learning, so it lends itself naturally to be improved by adding more training data and using better learning algorithms. Currently, version 2 is running in 145 hospitals across Europe, and a new version 3 is rolled out in 2019.Objective and Hypotheses: The aim was to validate version 3 against manual ratings in r...

Background: DICER1 syndrome is caused by germline mutations in the DICER1 gene. It is associated with a wide spectrum of benign and malignant neoplasms, which are accompanied by specific somatic mutations in DICER1. Multinodular goiter (MNG) is a common clinical feature of DICER1 syndrome in children and adults; the thyroid ultrasound (US) features of MNG in the setting of DICER1 syndrome have not been widely reported.<...

Objectives: Pediatric obesity (PO) leads in adulthood to chronic high-risk pathologies, if not adequately identified and addressed. The anthropometric methods for evaluating PO have well-described limits. One of the most recently proposed indexes to better locate and evaluate PO is the neck circumference (NC). We have verified the relationship between NC, body mass index (BMI), waist circumference (WC) and some laboratory parameters, with the aim of defining t...

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologie...

Prader Willi Syndrome (PWS) is a rare neuro-genetic disorder inherited as a result of lack of expression in 15q11-13 gene and 70% are paternally inherited. Characteristic features are dysmorphism, behavioural problems, infantile hypotonia, short stature, hypothalamic dysfunction, hyperphagia and morbid obesity. The long-term morbidity and mortality depend on hypothalamic dysfunction and obesity. While multidisciplinary care is essential, growth hormone (GH) is a recognized...