ESPE Abstracts

The COVID-19 pandemic has an impact on the incidence of type 1 diabetes. It is important to synthesize estimates of changes in incidence rates.Aim: To compare the incidence rates of type 1 diabetes mellitus (T1DM) in children of Saratov region during and before the COVID-19 pandemic.Patients and Methods: This is a retrospective multicenter study involving new onset T1DM paediatric patients (0-17 y....

Background: Obesity is associated with increased risks of the disease of the reproductive organs (including breasts). Several studies mentioned correlation between obesity and increased risks for breast cancer.Objective and hypotheses: To study the frequency and peculiarities of breasts diseases in adolescent girls with obesity.Method: The study included 2369 adolescent girls (aged 11–19 years). Gils were subjected to the clin...

Background: Pendred’s syndrome (Pendred’s disease) is a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism. Cause of Pendred’s syndrome is mutations in the SLC26A4 gene. The SLC26A4 gene provides instructions for making a protein called pendrin. The pendrin transports negatively charged ions (chloride, iodide, and bicarbonate) into and out of cells.Objective and hypotheses:...

Introduction: A natiowide screening for Congenital Hypothyroidism (CH) was introduced 1996 in Russian Federation and Saratov Region. Revelation of the incidence of CH is of great value at the background of moderate iodine deficiency existing in Saratov and Saratov Region. Neonatal screening is an effective method for early detection of congenital hypothyroidism, a disorder that requires the prompt initiation of the treatment, in order to prevent the subsequent...

Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ...

Viral infections may increase the risk of developing type 1 diabetes (T1D), and recent reports suggest that Coronavirus Disease 2019 (COVID-19) might have increased the incidence of pediatric T1D (M. Rahmati et al., 2022). In general, the course of viral infection in children is mild, the question of the long-term effects of COVID-19 on a child and adolescent, in particular, on pancreatic beta cells, remains unclear.Purpose: To ...

Background: Since its discovery in 2012 the ‘browining’ adipokine irisin is known to lead to increased thermogenesis and energy expenditure. Studies in children are scarce, with results similar to most studies in adults.Objective and hypotheses: To establish a link between total and abdominal fat mass, physical activity and irisin in preschool age.Method: Height, weight and waist circumference (WC) of 40 healthy pre-puber...

Background: Congenital Hyperinsulinism (CHI) is a common cause of persistent hypoglycaemia in the neonatal and infant period. It is most commonly caused by mutations in one of the KATP channel subunits, either SUR1 encoded by the gene ABCC8 or Kir6.2 encoded by the gene KCNJ11. Patients carrying mutations in the ABCC8 and KCNJ11 genes simultaneously have not been reported yet.Objective and hypotheses: Our aim was to describe the clinical pheno...

Background: Congenital Hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. To assess the pathogenic effect of novel ABCC8 mutations we performed in-vitro functional studies.Objective and hy...