ESPE Abstracts

Background: Currently, the diagnosis of GH deficiency (GHD) in infants and young children is based on the assessment of GH serum levels either during hypoglycaemia or after pharmacological stimulation tests. However, GH cut-off values have not been standardized and provocative tests may be unsafe in this age range.Objective and hypotheses: Brain MRI may replace GH measurements in diagnosing GHD in infancy and young childhood.Method...

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease associated with mutations in the autoimmune regulator (AIRE) gene and characterized by mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and primary adrenal insufficiency (AI). Two of these three components are required for diagnosis.Objective and hypotheses: To describe Russian patients in terms of clinical, genetic, and immunological parameters....

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...

Background: Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia in neonates, infants and children. CHI is a heterogeneous disease in terms of clinical presentation, genetics and histology.Objective and hypotheses: The aim of this study was to describe the clinical characteristics, genotype–phenotype correlations and treatment outcome of Russian patients with CHI.Method: A total of 90 children with CHI were iden...

Introduction: Genetic factors play an important role in determining individual susceptibility to weight gain and obesity. In the last few years, several genetic variants have been identified as monogenic forms of obesity. Among them, Leptin (LEP) and its receptor on hypothalamic neurons (LEPR) are key players in the regulation of body weight, food intake and energy homeostasis. Pathogenic variants in the LEPR gene cause severe childhood-onset obesity with an a...

Introduction: Growth hormone (GH) is essential for stimulating growth and cell proliferation through its effects on metabolism, cartilage and bone growth. We have conducted initial studies to find new biomarkers for GH deficiency and early treatment response, focusing on miRNAs expressed in both sexes. We aimed at investigating sex-specific differences in circulating miRNAs at baseline and after 3 months on GH treatment in a cohort of prepubertal children with...

Context: Metabolic dysfunction-associated fatty liver disease (MASLD) is the most common chronic liver disease. Recent data showed that MASLD is a common condition also in adults with type 1 diabetes (T1D) and it is independently associated with an increased risk of diabetic complications.Aims: To examine the prevalence of MASLD and its association with glycemic control metrics in children and adolescents with T1D.<p...

Introduction: Pituitary gigantism in children is a rare condition that results from excessive production of growth hormone (GH). The most common cause of gigantism is GH secreting pituitary adenomas, thart arise from excessive proliferation of somatotropic cells in the anterior portion of the pituitary gland. The described pediatric incidence is 3-8 cases per 1 million population. There are genetic syndromes associated with GH excess, especially in pediatric p...

Background: Health professionals are increasingly aware that the acoustic environment in the Neonatal Intensive Care Unit may affect infants’ well-being. Where unpredictable noise adversely affects sleep and physiologic stability, meaningful auditory stimulation might have positive effects, primarily in the short term. Furthermore, evidence is now emerging regarding beneficial long-term effects on neurodevelopmental outcomes. Notably, recent literature s...

Introduction: Ovarian stimulation syndrome (OSS) in an infrequent disorder, in preterm infants under 30 weeks gestation. The are very few cases described in the literature. The immaturity, lack of gonadal axis feed-back or mutations in the FSH receptor genes, may explain its physiopathology. We present the case of a 26-week neonate with this syndrome.Case summary: 26-week newborn with extremely low weight (460g) born by emergency cesarean section due to ...