ESPE Abstracts

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologie...

Introduction: Subclinical hypothyroidism (SH) is reported up to 20% of obese population and thyroid hormone replacement in these individuals are controversial. In this study, we aimed to determine the effect of thyroid hormones on basal metabolic rate (BMR) in obesity and, thyroid hormone replacement on BMH and weight in obese patients with SH.Method: The study was conducted in 31 obese children (15 of them had subclinical hypothyroidism) admitted to our...

Objectives: Assess thyroid volume in relation to TSH and FT4 at diagnosis of AHT and 2.9 years of follow up in children with SH or OH.Methods: wo hundred one children (155 girls) with AHT were divided according to TSH and FT4 levels [SH-FT4 >1.0 ng/dl: Group 1: TSH: 5-7.5 mU/l, Group 2: TSH: >7.5 mU/l, OH: Group 3: TSH>7.5 mU/l and FT4 ≤1.0ng/dl]. Mean L-T4 dose is reported in µg/Kg/day. Thyroid...

Objectives: Assess the dose of levothyroxine in relation to TSH and FT4 levels at diagnosis of AHT in children with SH and OH.Methods: Eighty eight children (69 girls) with AHT were devised in regard with TSH and FT4 at diagnosis [SH-FT4 >0.9 ng/dl: Group 1: TSH: 4.5-7 mU/l, Group 2: TSH: 7-10 mU/l, Group 3: TSH: >10 mU/l and OH: Group 4: TSH>10 mU/l and FT4 ≤0.9 ng/dl]. Mean L-T4 dose was reported in μgr/Kg per day at diagnosis an...

Background and aim: Epidemiologic studies have been shown that obesity increases the risk of renal disease and it impact on prognosis. In this study, we aimed to investigate both glomerular and tubular involvement in asymptomatic obese children and to investigate the association of metabolic-anthropometric parameters with renal parameters.Material-method: Children with BMI ≥95th percentile and diagnosed as primary obesity (n=43) were inclu...

Turner syndrome is linked to the absence or abnormality of one of the X chromosome leading to haplo-insufficiency of genes involved in the development and maintenance of the ovarian stock in women. The purpose of this study was to establish the clinical, hormonal, cytogenetic and evolutive pattern of Uzbek population with Turner syndrome and to search for correlations between genotype and phenotype. We examined 149 Uzbek girls with Shereshevsky-Turner syndrome aged from 3 mont...

Introduction: The thyrotropin receptor (TSHR) has a key role in the thyroid gland. It is involved in folliculogenesis, differentiation, organogenesis, and thyroid hormone synthesis and production. Its genetic defects can cause poor differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis, TD). Therefore, its phenotype spectrum is wide, ranging from severe congenital hypothyroidism (CH) to mild hyperthyrotropinemia. Some hetero...

Background: N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) is a recently established rare autosomal recessive disease caused by pathogenic variants in NANS involved in the biosynthesis of N-acetylneuraminic acid (the most common member of sialic acids). Sialic acids are ubiquitously distributed in the body including the brain and skeletal system, and are required for the development and function of multiple organs/tissues. C...

Background: Subclinical hypothyroidism (SH) has an incidence of 3.2–22.2% in obese children. The etiology of increased prevalence of SH is still unclear in obese individuals.Objective and hypotheses: To investigate the relation of SH with iodine deficiency, serum leptin levels and metabolic parameters in obese children and adolescents.Method: One hundred and fifty nine obese and 54 healthy children and adolescents were include...

Background: N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors that are widely expressed in the CNS where they play an important role in neurotransmission and cell viability and serve as drug targets for the treatment of neurodegenerative disorders.Objective and hypotheses: Much less is known about the role of pancreatic NMDARs. Since neurons and pancreatic islets have many features in common, we hypothesiz...