ESPE Abstracts

Background: Kocher-Debre Semelaigne syndrome (KDSS) is a rare form of myopathy in patients with longstanding moderate-to-severe hypothyroidism.Objective and hypotheses: We present the case of 7-year-old boy who developed muscular pseudohypertrophy, associated with long-term untreated hypothyroidism.Method: A 7-year-old boy presented with growth failure, lassitude and lethargy. He was born small for gestational age at 28 weeks gesta...

Background: Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia in neonates, infants and children. CHI is a heterogeneous disease in terms of clinical presentation, genetics and histology.Objective and hypotheses: The aim of this study was to describe the clinical characteristics, genotype–phenotype correlations and treatment outcome of Russian patients with CHI.Method: A total of 90 children with CHI were iden...