ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

Background: New-onset diabetes in youth can classically fall into three categories: type 1 diabetes (T1D), type 2 diabetes (T2D), or monogenic diabetes (MD). This classification is based on the underlying disease mechanisms, dictates treatment, and predicts outcome. Type B insulin resistance syndrome (TBIR) and ketosis-prone diabetes (KPD) are described in the African population, but their incidence in the pediatric population is very low.<p class="abstext...

The aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes.Methods: This study is a continuation of collaborative research project “Genetic diabetes in Lithuania” with the cohort of 1209 young diabetes patients. Prior screening for GADA, IA-2, IAA, ZnT8A confirmed type 1 diabetes (T1D) diagnos...

Introduction: Monogenic diabetes (MD) accounts for at least 3% of all pediatric diabetes cases. MD is often misdiagnosed as type 1 or type 2 diabetes, because of its wide phenotypic spectrum. While clinical and biochemical parameters can suggest MD, a definitive diagnosis requires genetic analysis. We conducted a broad study to diagnose MD cases. Then, with the gained knowledge, we designed a new diagnostic to...

Background: Monogenic diabetes (MD) remains undiagnosed in more than 90% of the cases. However, precise, quick and cost-effective diagnosis is important to choose an adequate treatment and to avoid long-term complications.Objective and hypotheses: To develop and validate a diagnostic tool to improve diagnosis rate of MD in Switzerland, as well as to open new research directions.Method: Targeted next-generation sequencing (NGS) of 3...

Background: Neonatal diabetes mellitus is defined by severe hyperglycemia appearing before 6 months of age. It occurs in about one in 200 000 live births and most cases are known to be of monogenic origin. Classical autoimmune type 1 diabetes mellitus (DM) is exceptional in this age group.Objective and hypotheses: Recently non-HLA type 1 DM susceptibility genes, such as IL18RAP, influencing the rate of progression to diabetes among children with...

Background: Monogenic diabetes is a heterogeneous group of diabetes due to a single gene mutation and includes neonatal diabetes (NDM), MODY and rare forms of syndromic diabetes. These forms of diabetes remain undiagnosed in probably more than 90% of patients. The aim of the study was to identify mutations causing monogenic diabetes using a single test.Method: Swiss endocrinologists were proposed to participate in the study and to send blood samples of t...

Background: Microcephalic primordial dwarfism (MPD) is a group of rare genetic disorders defined by severe growth restriction of both prenatal and postnatal weight (W), height (H), and particularly head circumference (HC).Objective and hypotheses: To elucidate the genetic origin of the MPD in dizygotic twins.Method: Exome sequencing of 19 genes known to be implicated in microcephaly was performed.Results: Diz...

Background: Patients with type 1 diabetes (T1D) are at higher risk for developing coexisting autoimmune diseases.Objective and hypotheses: To evaluate thyroid and celiac disease prevalence in children with T1D in Lithuanian paediatric population.Method: 777 patients (49.7% males) <18yrs with T1D, covering all T1D pediatric Lithuanian population, were examined. Serum free thyroxine (FT4), thyrotropin (TSH), antithyroid peroxidas...