ESPE Abstracts

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

Relevance: Evaluation of bone metabolism is a new scientific direction in the study of the long-term effects of childhood obesity.Objective: To study markers of bone metabolism in children and adolescents with obesity.Materials and Methods: 74 children with overweight and obesity in accordance with the WHO criteria and 25 healthy children with an average age of 15.4[11.6;19.2] year...

Background: Obesity is one of the most frequent chronic diseases in the world, however the true prevalence of obesity in the RF remains at the moment insufficiently studied.Aims: To study the age features of the prevalence obesity in boys in the Udmurt Republic - the region in European part of the Russian Federation with the children population of 335 000.Methods: 4795 boys aged 1–17 years were surveyed, among them 2368 (49.4%...

Background: Nonclassical 21-hydroxylase deficiency (NC21OHD) is one of the most common monogenic diseases. Its frequency varies significantly among different ethnic groups. In Russians the frequency of NC21OHD is unknown.Objective and hypotheses: To estimate the incidence of NC21OHD in Russia based on the carrier frequencies of the two most common mutations associated with this disease (V281L and P30L).Method: A total of 998 random...

Background: Obesity is an increasing problem among children and adolescents in recent decades however official statistics are contradictory.Objective and hypotheses: The purpose of this epidemiological study was to determine the prevalence of obesity in children and adolescents in the Udmurt Republic – the region in European part of the Russian Federation with a child population of 300 thousand people.Method: According to the ...

The role of insulin-like growth factor-1 (IGF-1) in the regulation of growth of children with intrauterine growth is currently being discussed, but the final point of view has not been achieved.Aim: to study the effect of IGF-1 in the dynamics of postnatal growth of premature infants with SGA in the first 5 years of life.Material and Methods: The prospective study included prematurity with SGA (gro...

Prematurity combined with intrauterine growth retardation (small to gestational age, SGA) is a potential risk factor for adverse growth prognosis. There is insufficient evidence on this issue.Aim: to study the growth rates in preterm infants born small to gestational age, different gestational age in the first 5 years of life.Material and Methods: The prospective study included preterm infants with...

Premature infants born small by gestational age (SGA) represent a potential cohort for growth retardation. However, up to the present time, questions of the frequency and severity of the growth deficit, the timing of the growth rate, the age of achievement of the population standard depending on the gestational age have been discussed.Aim: To assess the dynamics of growth of preterm infants born small by gestational age within 5 years of life, taking int...

Background: Mutations in GH-1 gene is a rare cause of isolated growth hormone deficiency. Main features of this condition include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.Objective and hypotheses: 1.56 years old girl was admitted to our hospital because of short stature. She was born at term from closely related healthy parents. Her birth length and weight were 48 cm (SDS: −1.07) a...

There is not enough reasoned data on the dynamics of body weight indices in premature infants born small by gestational age (SGA).Aim: To study the nutritional status in premature babies born small by gestational age, in the first 5 years of life.Materials and Methods: The prospective study included preterm infant with SGA (n = 100) and prematurity corresponding to gestational age - AGA (n = 69) w...