hrp0082p2-d1-326 | Diabetes | ESPE2014

Trends in Incidence and Prevalence of DM Type 1 in Children in Ukraine During 2002–2012

Globa Evgenia , Zelinska Nataliya

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...

hrp0094p2-139 | Diabetes and insulin | ESPE2021

Different schemes of insulin therapy (CSII and MDII) in children with DM1 in a Dnipro city.

Yenhovatova Viktoria , Zelinska Nataliya , Globa Evgenia ,

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...

hrp0089p2-p184 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

20 Cases of Congenital Hyperinsulinism in Ukraine

Globa Evgenia , Zelinska Nataliya , Ellard Sian , Flanagan Sarah , Christesen Henrik

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...

hrp0084p3-609 | Adrenals | ESPE2015

The Prevalence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Children 0–18-Years-Old in Ukraine

Zelinska Nataliya , Pogadayeva Nataliya , Globa Evgenia , Shevchenko Irina

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...

hrp0084p3-1238 | Turner | ESPE2015

Growth Characteristics of Patient with Turner Syndrome Different Age and Karyotypes by the Ukrainian National Register

Zelinska Nataliya , Shevchenko Irina , Globa Evgenia , Pogadaeva Nataliya

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...

hrp0084p3-1239 | Turner | ESPE2015

Nationwide Study of Turner Syndrome in Ukraine

Zelinska Nataliya , Shevchenko Irina , Globa Evgenia , Pogadaeva Nataliya

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 ...

hrp0094p2-169 | Diabetes and insulin | ESPE2021

Case of HNF1B MODY

Yenhovatova Viktoria , Zelinska Nataliya , Globa Evgenia , Patel Kashyap ,

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...

hrp0092fc10.4 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Loss-Of-Function and Missense Mutations in MYRF are a Novel Cause of Autosomal Dominant 46,XY Leydig Cell Hypoplasia and 46,XY Gonadal Dysgenesis

McElreavey Ken , Globa Evgenia , Bertalan Rita , Bignon-Topalovic Joelle , Brauner Raja , Bashamboo Anu

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...

hrp0092p1-127 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Mutations in CBX2 Associated with Gonadal Anomalies in 46,XY and 46,XX Individuals

Merel Tiphanie , Eozenou Caroline , Van Maldergem Lionel , Globa Evgenia , McElreavey Ken , Bashamboo Anu

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 ...

hrp0089p3-p172 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

Forty patients with persistent, non-focal congenital hyperinsulinism: Urgent need for new treatment modalities

Rasmussen Amalie Greve , Melikian Maria , Globa Evgenia , Detlefsen Sonke , Rasmussen Lars , Petersen Henrik , Brusgaard Klaus , Rasmussen Annett Helleskov , Christesen Henrik

Background: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a focal, diffuse, or atypical histological form and a high risk of cerebral injury due to severe hypoglycemia.Methods: We retrospectively evaluated the treatment and outcome of a cohort of patients with non-focal, persistent CHI admitted to the International Hyperinsulinism Center, Denmark from January 2000 to May 2017. Data were extracted from hospital files.<p class=...