ESPE Abstracts

Introduction: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline mutations in WT1 have been classically associated with Denys–Drash (DDS) and Frasier syndrome (FS). Exonic missense mutations in the zinc-finger region are the cause of DDS and mutations affecting the canonic donor KTS splice site of intron 9 are the cause of FS. New phenotypes, as 46,XX testicular DSD...

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 85–90% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

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...

Aim: to evaluate the frequency and predictors of short stature in preterm infants born small for gestational age (SGA), by the age of 5 years. Materials and Methods. We examined 100 premature babies (gestational age of 22-31 weeks – 18, 32-36 weeks – 82), born SGA with the tables Fenton T. R. et al. (2013). Protocol included an assessment of anthropometric indicators and IGF-1 levels in the blood at birth, at the ages of 1 and 5 years. The odds ratio...

Objectives: The aim of the study was to evaluate the associations of metabolic status and eating behavior (EB) in young children and variants of energy metabolism genes.Materials and Methods: A longitudinal study of 106 children in the dynamics of the first 2 years of life was carried out. Groups of children were identified taking into account BW at birth (large-weight by gestation (n=50), underweight by gestati...

Suitably treatment of Basedow–Graves’ disease (BGD) provide the minimization of time to develop the medicamental remission. Research: determine clinical, laboratory particularities, evaluate efficiency of pharmaceutical treatment of BGD in children in different age groups. Materials and methods: 35 children with BGD were examined (4 boys, 31 girls): 1st group (Tanner 1) n=4, 7.5±0.65 years; 2nd – (Tanner 2–4) n=22, 12.32±0.31 yea...