ESPE Abstracts

Background: Insulinomas are extremely rare tumors in children and an uncommon first manifestation of the MEN1 syndrome. An early clinical and genetic diagnosis is very important for the appropriate medical assessment and family counseling. In children, insulinomas are usually benign tumors with only a few reports of malignant cases.Objective and hypotheses: To investigate clinical features, genetic and morphological characteristics of 12 children with pr...

Background: Insulinomas are very rare in childhood with sparse knowledge on the clinical aspects and the presence of Multiple Endocrine Neoplasia type 1 (MEN1).Methods: We conducted a multicentre retrospective review of patients diagnosed with insulinoma between 1995-2021. Clinical, biochemical, genetic, imaging and histological data were collected. In addition, follow-up and family data were obtained.<p class="abste...

Hyperglycemia in newborns is most common in premature infants. At present, in clinical practice, the attitude towards this type of metabolic disorders is not well defined and controversial.Objective: To determine the feasibility of prescribing insulin for hyperglycemia in premature newborns.Patients and Methods: We observed 68 newborns with a birth weight of 1326 ± 119.8 g and a gestational ag...

It is noted that with gestational diabetes mellitus, lipids cross the placenta in a limited amount. It is assumed that their concentration in maternal blood correlates with the concentration of lipids in the fetus. The purpose of this study was to compare the levels of the main indicators of the lipid profile, such as cholesterol, triglycerides and high and low density lipoproteins, in newborns and similar indicators in their mothers with gestational diabetes.<p class="abs...

Introduction: Noonan Syndrome (NS) is a genetic disorder caused by mutations in the RAS/MAPK pathway. The clinical phenotype is variable; however, short stature is present in more than 80% of cases. Several clinical trials have been conducted over the last decades using recombinant growth hormone (rhGH) in NS to treat short stature demonstrating efficacy and safety which lead to the European Medicines Agency (EMA) approval in 2020.<stron...

Discussed in literature is primarily the impact of late-onset hypogonadism in men as a factor of development of endothelial dysfunction, insulin resistance and systemic inflammation, while the pathogenic role of hypoandrogenia in development of metabolic disorders in male individuals during puberty currently remains undetermined.Aim of research: To determine characteristics of lipid profile in adolescent boys with hypoandrogenia.Ma...

Background: Thyroid dysfunction plays an important role in formation of dyslipidemia during obesity while thyroid pathology (TP) is one of the most common endocrinopathies associated with obesity. Among adults existence of gender differences has been proven in formation of a dyslipoproteiniaemias and thyropathies; the presence of such changes in obese children requires clarification.Objective and hypotheses: To explore the details of blood lipids in chil...

Background: Vascular Endothelial Growth Factor (VEGF) is largely produced by adipose tissue and is an important regulator of physiological and pathological angiogenesis in adults with obesity.Objective and hypotheses: To determine the nature of VEGF production and its connection to the formation of vascular complications in patients with childhood obesity.Method: In 87 children (42 boys and 45 girls) 9–17 years old with obesit...

Background: Obesity in adults is closely associated with an increased prevalence of thyroid gland (TG) pathology, but thyropathy formation issues among children are not sufficiently studied.Objective and hypotheses: To determine the prevalence and structure of TG pathology in children with obesity by gender and degree of puberty.Method: In 121 patients 6–16 years old with obesity a thyropathy detection was conducted (diffuse n...

Background: Lowe syndrome or oculocerebrorenal syndrome is a very rare condition (1:50 000) caused by mutations in the OCRL1 gene. It is an x-linked disorder characterized by congenital cataracts, renal tubular dysfunction, neurological defects (generalized hypotonia and mental retardation) and growth disorders. Growth pattern in Lowe syndrome has not been described in population-based studies so far.Objective: Descriptive multicenter international study...