ESPE Abstracts

Background: in our days the case of reduction of bone mineral density becomes more common. This pathology can be detected in children and adolescents with obesity with the help of densitometry.Aim: to reveal the dynamics of body composition indicators in obese children.Methods: we examined 32 children with obesity in the University Hospital (Minsk) in 2020-2022 yrs. Their anthropom...

Timely recognition and treatment of neonatal hypoglycemia are important because of the potential for adverse neurodevelopmental outcomes. One of the major problems in infants born following a pregnancy complicated by diabetes is hypoglycemia. In addition, hypoglycemia occurs in infants of non-diabetic mothers. We conducted a retrospective cohort study including all infants who had hypoglycemia during the first day of life, between 1-9-2017 and 31-8-2020. We studied the relatio...

Background: Congenital hypothyroidism (CH) is a common condition that occurs in ~1:3000–4000 live births and is one of the most common preventable cause of mental retardation with an early diagnosis and prompt pharmacological treatment. Neonatal screening has abolished this disease but 10% of children originally diagnosed with CH will have a transient form of the disorder and this percentage is increased during the last years due to a lowering of cut-off.<p class="abs...

Introduction: CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...

Introduction: Autosomal dominant congenital hyperinsulinism (CH) is characterized by congenital hypoglycemia due to mutations in any of several genes including the glucokinase (GCK) gene. It is a rare disease with variable clinical symptoms mostly treated medically but in some cases requiring surgical intervention.Aim: We describe herein the clinical presentation and the genetic diagnosis of CH in two generations of an I...

Background: Tissue glucocorticoid sensitivity is characterized by a considerable variation in terms of therapeutic response and side effects to synthetic glucocorticoids. The multi-metabolite concentration profile measured by untargeted plasma metabolomics provides a comprehensive metabolic signature that might be used in clinical practice.Objective and Hypotheses: To investigate the usefulness of plasma metabolomics in identifying a metabolic signature ...

Background: Maturity Onset Diabetes of the Young (MODY) constitutes a genetically and clinically heterogeneous type of Monogenic Diabetes (MD). It is characterized by early onset, autosomal dominant inheritance and a defect in β cell insulin secretion. To date 14 different MODY subtypes have been reported each one with a distinct genetic aetiology. However four are the most common subtypes, namely MODY 1 (HNF4A), MODY2 (GCK), MODY3 (HNF1A), MODY...

Background: Glucocorticoids exert profound immune-modulating effects and regulate the expression of genes involved in cell cycle progression and apoptosis. Synthetic glucocorticoids are the most potent agents used in the treatment of inflammatory, autoimmune and lymphoproliferative disorders. Considerable variation in response to therapeutic doses of glucocorticoids exists among individuals, as evidenced by differences both in disease response and in the incidence of glucocort...

Background: In humans, glucocorticoids (GCs) regulate a broad spectrum of physiologic functions, exerting both genomic and nongenomic actions through their ubiquitously expressed glucocorticoid receptor (hGR). The rapid nongenomic actions of GCs are likely to be mediated by membrane hGRs that transduce the glucocorticoid signal via activation of kinases. S-palmitoylation plays an important role in plasma membrane localization and occurs through a highly conserved nine amino ac...

Background: The noncoding RNA growth-arrest-specific transcript 5 (Gas5) is abundant in cells whose growth has been arrested owing to lack of nutrients or growth factors. Gas5 is a riborepressor of the glucocorticoid receptor, influencing cell survival and metabolic activities during starvation by inhibiting the latter’s transcriptional activity.Aim: To determine the expression levels of Gas5 in blood samples of obese, overweight and lean children a...