ESPE Abstracts

Clinical case: A 17-year-old patient was observed with a diagnosis of GD in October 2016. When the patient was examined in the hormonal profile there were hyperthyroidism, a high titer of antibodies to the TSH receptor, in connection of which thyrostatic therapy initiated. In dynamics since November 2018 there has been a pronounced increase in the total volume of the thyroid gland. Firstly she was examined at the Endocrinology Research Center in October 2019...

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

Objective: to assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. 36 patients were included. The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 patients with Kallmann syndrome...

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...

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...

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...

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder that arises from lack of expression of paternally imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, hyperphagia, childhood onset obesity, hypothalamic endocrinopathy and characteristic appearance. It is known that due to severe obesity PWS patients are prone to develop type 2 diabetes mellitus (T2DM), whi...

Background: Screening for congenital hypothyroidism (CH) in the Russian Federation started in 1994. A survey was conducted in 1994 on the basis of 32 laboratories, and since 2007 newborn screening is being carried out in 79 laboratories of 83 regions of the Russian Federation.Objective and hypotheses: To study the prevalence of CH in Russia and in different regions of the Russian Federation.Method: Official statistics on CH screeni...

Background: Congenital hypothyroidism (CH) is an inborn disease with an incidence rate of 1 case per 3,600 newborns of which 15-20% cases are associated with thyroid dyshormonogenesis. The TPO gene encodes thyroid peroxidase. Disease associated with this gene is usually transmitted in an autosomal recessive mode. Hypothyroidism-associated TPO variants are usually biallelic, limited evidence for cases in patients with heterozygous variants exists.Method...

Myokines - biologically active proteins produces and secretes by skeletal muscles in response to physical activity (PA). They play a role in lipid and glucose metabolism, myogenesis and osteogenesis, thermogenesis activity. Exercise-induced expression of myokines in adolescents with simple obesity insufficiently studied.Objective: to determine which intensity and duration of PA maximally changes the level of myokines (interleukin-6 (IL-6...