ESPE Abstracts

Background: The aim of the study was to describe the incidence and prevalence trends of diabetes mellitus (DM) type 1 in children of different age groups in Ukraine during 2002–2012.Objective and hypotheses: Ukraine has a 25 districts, with a population of 45 553 000, including 7 971 638 children.Method: We analyzed data based on a clinical diagnosis in child population aged 0–17 years old centrally from all regions of Uk...

Background: Due to the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with DM1 0-17 y.o. in 2019 was 9860 (1 in 769), with Dm2 36 (1 in 210,547) with neonatal DM (NDM) 66 (1 in 115,000), with MODY 40 cases (1 in 114,844). The diabetes prevalence rates increased from 9.3 (per 1000) in 2007 up to 12,57 (per 1000) in 2018. CSII is well established in pediatric patients with DM1. Most studies focus on such parameters as HbA1c levels...

As of 2022, the Ukraine Pediatric Diabetes Register (UPDR) contained children aged <18 years with DM1- 11014 (1 in 677), with DM2 – 51 (1 in 146274), with neonatal diabetes (ND) – 69 (1 in 108115), and 59 cases (1 in 126440) with MODY. Most studies focus on such parameters as HbA1c, acute complications and quality of life, whereas investigations of the frequency of chronic DM1 complications and glycemic control for internally displaced persons (IDP) have not bee...

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: 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...

MYRF is known to regulate the myelination of the central nervous system and mice with a conditional deletion of MYRF in oligodendrocyte precursors has anomalies of motor skill. Recently, several loss-of-function and missense mutations in MYRF have been reported in association with syndromic forms of congenital heart disease (CHD) with elements of Scimitar syndrome and/or with congenital diaphragmatic hernia (CDH). In most 46,XY individuals a range of...

The Polycomb Repressive Complex 1 (PRC1) represses gene expression through CBX2, which binds to H3K27me3 and promotes chromatin expression. Recently, CBX2 has been shown to function in testis-formation by directly repressing Wnt4's downstream target, Lef1, in Sertoli cells rather than positively controlling Sry expression, as previously thought. Here, we describe two new cases carrying missense mutations in CBX2. The first is a female with 46,XY ...