ESPE Abstracts

Background: Obesity is accompanied with the development of serious complications, including behavioural disorders. Obesity with impaired neuroendocrine status confirmed, but papers describing these interactions are a bit.Objective and hypotheses: To compare the state of neuroendocrine status in children with various forms of obesity and normal weight control to the evaluation of central hormonal regulators of energy balance.Method:...

Introduction: Type 1 diabetes mellitus (T1D) is the most common form of carbohydrate metabolism disorder in childhood. There are also monogenic forms of diabetes. In the world literature, there are isolated mentions of the combination of monogenic and autoimmune forms of diabetes mellitus.Clinical case: A 10-year-old obese patient presented with hyperglycemia. At hospitalization: height 168 cm, weight 87 kg, SDS BMI +3.0. Glycemia 14.4 m...

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: Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, anterior pituitary hypoplasia and an interrupted pituitary stalk. In some cases, a variety of additional congenital defects may be present. A genetic cause is identified in only around 5% of all cases.Case presentation: A 13-year-old male presented to the pediatric endocrinology clinic because o...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: T...

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...

Introduction: Thyroid surgery in children is associated with high risk of recurrent laryngeal nerves (RLN) damage. It is due to complex and variable anatomy, high bleeding which decreasing visualization and requiring instrumental hemostasis. Large goiters change of syntopy, metastatic process requires bigger aggression and volume of intervention. The risk of damage significantly increases during repeated operations due to the scar process. There is significant...

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...

Objectives: to study the frequency, ultrasound characteristics and the evolution of intrathyroidal ectopia of thymus(IET) in children.Materials and Methods: as part of an epidemiological study (2014-2017), an assessment consists of incidence of IET in pre-puberty children, which using ultrasound of 1164 patients (604 girls, 560 boys). As part of a clinical study (2014-2019), the ultrasound characteristics and the evoluti...

Actuality: Standard methods for determining the compensation of the disease don't always reliably reflect the level of the glycemic control of the patient, which leads to decompensation diabetes and reduce the quality and duration of life for patients. Evaluation of glycemic variability indices allows the physicians to predict the risk of developing life-threatening conditions and compensate the diabetesAim: To condu...