ESPE Abstracts

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...

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

Background: The negative effect of military conflicts on the health of the child population is a proven fact. The consequences of modern military conflicts for the physical development of children are practically not studied.The aim: Of the study is to assess the nature of the physical development of children affected by the military conflict in the East of Ukraine.Materials and methods: At the 179 girls and 128 boys aged 6–18...

Background: The blood-brain barrier (BBB) is a multicellular neurovascular unit (NVU) that allows selective passage of necessary molecules into the central nervous system (CNS) while limiting the entry of neurotoxins and most drugs. A cross talk with pericytes and neural cells mediates the acquisition of tight junctions (TJs) in brain microvascular endothelial cells (BMECs), which limit the paracellular passage of solutes, thereby regulating CNS homeostasis. H...

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...

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

Background: It is hard to treat severe obese children only with diet and physical activity, psychological interventions are need.Objective and hypotheses: To examine the differences between courses of non-medicament treatment of severe obese children.Method: We examined 32 pubertal severe obese children BMI 31.2±0.8 kg/m2, 13.5±0.3 years. The newel (in Belarus) course of non-medicament treatment of obesity (die...

Background: TransCon hGH is a sustained-release prodrug in development as a long-acting GH for children with growth hormone deficiency (GHD). TransCon hGH consists of a parent drug, growth hormone (hGH; somatropin), that is transiently bound to a carrier via a TransCon linker. The carrier extends hGH circulation time in the body and fully active hGH is released over one week at physiologic pH and temperature. Unlike other molecules in development, TransCon hGH...

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...