ESPE Abstracts

Background/aim: Osteoporosis is a known complication in adults with type 1 diabetes mellitus (T1DM), but whether the bones are affected in children and adolescents with T1DM remains controversial. The study aim was to evaluate bone mineral density (BMD) in children and adolescents with T1DM and identify risk factors associated to lower BMD.Method: In a single-center cohort of children and adolescents with T1DM, BMD was examined by dual-energy X-ray absor...

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: Congenital hyperinsulinism (CHI) is a rare, heterogeneous disease with a transient, recurrent or persistent course. Transient CHI (tCHI) is considered to be caused by non-genetic risk factors e.g. birth asphyxia and intrauterine growth restriction (IUGR), while persistent hyperinsulinism is known to be caused by mutations in at least nine genes: ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, HNF1A and UCP2.Objective and hy...

Background: Congenital hyperinsulinism (CHI) has not been studied in the Ukraine.Objective and hypotheses: We investigated the genetic aetiology and treatment of patients with CHI.Method: Routine clinical and laboratory investigations were performed in children with hypoglycaemia. Genetic testing was undertaken for seven patients with CHI from 9 families. KCNJ11, ABCC8, HNF4A genes were sequenced in all patients. For those...

The present study aimed to determine the mutational and molecular landscape of a 17 mm insulinoma from a fifteen-year-old male. Using targeted exome sequencing and microarray, we investigated somatic candidates in the insulinoma. The microarray analysis was conducted using 12 other insulinomas as a control group and revealed a total of 1907 differentially expressed genes (P-value < 0.05, FDR P-value < 0.05). After thorough gene variant filtering, we ide...

Background: Normal neonates exhibit a transitional state of physiological hyperinsulinism (HI) during the first 2-3 days of life as an adaption from the fetal state. Prolonged, pathological HI can cause irreversible cerebral damage, if not avoided by early diagnosis and prompt treatment. We hypothesized that umbilical cord blood glucose, included in routine cord gas analysis, can be used as an ideal screening tool for pathological HI. We first aimed to establi...

Background: Hypercalcaemia in infants may reach extreme levels due to hyperparathyroidism, subcutaneous fat necrosis, or vitamin D intoxication. Normal values for p-parathyroid hormone and p-calcitriol prompt search for other causes.Methods: Hospital file evaluation, case report.Results: A 5½-months-old Caucasian girl of non-consanguineous healthy parents was referred due to w...

Context: Severe vitamin D deficiency may lead to myopathy in adults. Little is known about vitamin D and muscle strength in children.Objective: To test whether hand grip strength (HGS) in 5-year-old-children associates with serum 25-hydroxyvitamin D (s-25OHD) from pregnancy to 5 years.Methods: Observational study in the population-based Odense Child Cohort, Denmark. At 5 years, anthropometrics, body fat percentage by skin fold meas...

Background: Idiopathic ketotic hypoglycaemia (IKH) is an exclusion diagnosis and the most common cause of hypoglycaemia in childhood. Glycogen Storage disease (GSD) type IX comprises one quarter of all GSD’s. GSDIXa, encoded by PHKA2, is the most frequent subtype.Objective: To investigate whether IKH may be undiagnosed GSDIXa.Methods: Hospital file review and next generation sequence 29 gene GSD-panel.<p class="ab...

The neurodevelopmental consequences of neonatal hypoglycaemia are sparsely studied. We included neonates with blood glucose <1.7 mmol/L, but no severe perinatal risk factors, in a follow-up with blinded Wechsler’s Intelligence Scale for Children-IV (WISC-IV), Movement ABC-2 tests and child behaviour checklist (CBCL). Neurodevelopmental impairment was defined as psychomotor retardation, blindness, epilepsy, cerebral palsy, WISC-IV score <70, or Movement ABC-2 <...