ESPE Abstracts

Background: In this study we investigated mortality in children with monogenic diabetes.Methods: Within the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with type 1 diabetes mellitus (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). We used targeted next generation sequencing (tNGS) of all known...

Itroduction: Thiamine responsive anemia (TRMA) known as Rogers syndrome; is an early-onset, autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Diabetes in this condition is well described in infancy but has only very rarely been reported in association with neonatal diabetes.Case: 3-months old male patient with neonatal diabetes was admitted to our outpatient clinic because of uncontrolled hy...

Background: Neonatal diabetes mellitus (NDM) is a relatively rare form of monogenic diabetes and usually presents in the first 6–9 months of life. In this study, our objective was to report the clinical details, perform a detailed genetic analysis and acquire a clinical–phenotype correlation of our cohort.Materials and methods: NDM patients referred to SN Endocrine centre between period of Nov 2014 to April 2017 and patients under follow-up wit...

Background: Neonatal Diabetes Mellitus (NDM) is a rare form of monogenic diabetes that typically presents during the first 6 months of life. Its prevalence is about 1:100 000 live births; however it may rise up to 1:29 000 in highly consanguineous populations. Mutations in 22 different genes are reported; with the most common cause being potassium channel subunit gene (KCNJ11/ABCC8) mutations. However, causative mutations among consanguineous populations seem to diffe...

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

Background: NEUROD1 encoding neurogenic differentiation 1 is known to play an important role in the development of the pancreas and central nervous system. Heterozygous mutations have been rarely identified as a cause of maturity-onset diabetes of the young (MODY6). Biallelic NEUROD1 mutations have been reported to cause neonatal diabetes mellitus (NDM) as well. However, only 3 cases have been reported worldwide so far....

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

Aim: The most common cause of persistent hypoglycemia and related brain damage in infancy is congenital hyperinsulinism (CHI), due to inappropriate secretion of insülin by pancreatic βcells. The most frequent and most serious mutations are activating mutations in ABBC8 or KCNJ11 genes. Genetic analyses, which might predict the type of lesion, performed in early period and 18f dopa pet scanning are very valuable for treatment choice and follow-up of the patients. In t...

Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes presenting in the first 6 months of life. NEUROD1 is a transcriptional factor involved in the development of endocrine pancreas. A few patients with maturity onset diabetes of the young (MODY) due to heterozygous NEUROD1 mutations and only two cases with permanent NDM (PNDM) associated to neurological disorders and cerebellar hypoplasia due to homozygous mutations in the NEUROD1 gene have been reported.<...