ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is a rare heterogeneous disease. Genetic testing is crucial as identifying the underlying aetiology can guide clinical management.Objective and hypotheses: We investigated the clinical characteristics and genetics of 20 Ukrainian patients with CHI.Methods: Routine clinical and laboratory investigations were performed on 20 patients with hypoglycemia and unsuppressed C-peptide and p-insul...

Background: Micronodular adrenal hyperplasia (MAH) is a rare disease.Objective: Describe the clinical, biological and genetic characteristics of micronodular adrenal hyperplasia (MAH) in children.Method: Retrospective study based on medical records (from the NIH and Bicêtre Hospital) of 47 pediatric patients (age <18 years at first signs of disease) with ACTH-independent Cushing syndrome (AICS) due to MAH proven histologic...

Background: The prevalence of congenital adrenal hyperplasia (CAH) in European countries is reported as 1:10–15 000. It depends on the quality of its diagnostics and efficacy of neonatal screening (NS). In Ukraine the NS was started in 2012.Objective and hypotheses: This is the first study of CAH epidemiology in children 0–18-year-old in Ukraine.Method: In 2013 it was created a database (DB) of Ukrainian children with CAH...

Background: Turner syndrome (TS) is the most well-known and common chromosomal disorder accompanied by delayed growth. According to the Ukrainian national register (UNR) of children with dwarfism the growth retardation is common for all girls with TS.Objective and hypotheses: The aim of the study was to determine the growth parameters of TS girls different age and karyotype, before GH treatment.Method: According to the UNR it was p...

Background: Turner syndrome (TS) is one of the most common genetic disorders associated with abnormalities of chromosome X that occurs in different populations with a frequency of 25–210 per 100 000 female live births.Objective and hypotheses:: The aim of this study was to investigate the prevalence of TS in ukrainian children, as well as frequency variations of karyotype and age of primary diagnosis of TS.Method: We analysed ...

Background: MODY HNF1B variants are most frequently associated with extra-pancreatic manifestations like renal cysts [leading to renal cysts and diabetes (RCAD) syndrome], abnormalities of the uro-genital tract and hypomagnesemia, but may also cause MODY or renal structural disease in isolation, therefore cases of HNF1B MODY still remained largely undiagnosed. In Ukraine, there are currently three patients with MODY HNF1B de novo who...

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

The accumulation of adipose tissue, especially visceral fat, represents a risk factor for reduced bone mineral density and spontaneous fractures. Several mechanisms have been proposed to explain the complex relationship between adipose tissue and bone. Obesity is associated with the production of inflammatory cytokines both by adipocytes and immune cells which may stimulate bone resorption and reduce bone strength. Studies in vitro and in vivo have reported t...

Background: Apoptosis is a programmed sequence of events towards cell death. Blood vessels employ apoptosis for remodeling during development and to maintain homeostasis during adulthood. The atherosclerotic process begins in early childhood and is correlated with obesity and metabolic disorders.Objective and hypotheses: To investigate the correlation of apoptotic marker Apo-1/Fas with children’s biochemical and anthropometric characteristics.<p...

Background: The DNA-binding High Mobility Group Box-1 (HMGB1) is an intracellular gene regulator that can be secreted also in response to inflammatory mediators, including interleukins, binding subsequently to both RAGE and Toll-like receptors forming a self-reinforcing inflammatory circle. Cystic fibrosis (CF) is a condition characterized by chronic inflammation. Elevated serum HMGB1 concentrations were described in serum of obese children and to be associated with the metabo...