ESPE Abstracts (2021) 94 P1-72

1Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic; 2Office for Rare Conditions, University of Glasgow, Glasgow, United Kingdom; 3Department of Pediatrics, Otto-von-Guericke University, Magdeburg, Germany; 4Department of Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom; 5Developmental Endocrinology Research Group, University of Glasgow, Glasgow, United Kingdom; 6Department of Paediatrics, Pediatric DIabetes Unit, Frederico II University Hospital of Naples, Naples, Italy; 7Pediatric Unit - IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; 8Institute of Endocrinology, Medical Academy, Lithianian University of Health Sciences, Kaunas, Lithuania; 9Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; 10Department of Pediatric Endocrinology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, Netherlands; 11Department of Medicice, Division of Endocrinology, Leiden University Medical Centre, Leiden, Netherlands

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.

Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa network.

Materials and methods: From July 2018 to March 2020, a total of 17 investigators from 14 European reference centers embedded in EuRRECa programme ( reported 77 cases of CHI using a simple e-Reporting (e-REC) tool. These investigators were subsequently asked to complete a web-based questionnaire that obtained information on the phenotype, diagnostic procedures, genotype, treatment, and long-term sequelae of reported cases. Cases with confirmed CHI genetic etiology and those with no genetic findings were compared.

Results: The questionnaire was completed in 55/77 (71%) of reported cases from 9/14 (64%) centers. Out of 55 cases, 44 (80%) had a clinical diagnosis of CHI. Of these, all presented with clinical symptoms of CHI, in 41/44 (93%) laboratory results confirmed the diagnosis. Twenty out of 44 (45%) cases had proven genetic CHI etiology – variants in genes ABCC8 in 13, GLUD1 in 3, GCK in 2, and single cases of KCNJ11 and genetically confirmed Beckwith-Wiedemann syndrome. Thirty-two patients (73%) presented first symptoms within the first 7 days of life. In 41/55 cases, treatment modalities were reported. CHI cases were most frequently treated with intravenous glucose (28 cases), dietary recommendations (35 cases), diazoxide (33 cases), octreotide (4 cases), long-acting octreotide (1 case), and glucagon (1 case) application. Six children underwent surgery, 5 partial and 1 total pancreatectomy. Currently, 28/44 (64%) children have age-appropriate neurological status and 5/44 (11%) have delayed psychomotor development. Current neurological status was not reported in 11/44 (25%) cases. Compared to the children without known genetic etiology, those with genetically confirmed CHI were treated less frequently with diazoxide (60% vs. 88%), and more frequently with octreotide (20% vs. 0%) and with surgery (30% vs. 0 %). The long-term outcomes did not differ between groups (psychomotor retardation was reported in 10% vs. 13%).

Conclusion: This first report on CHI from the EuRRECa network showed significant heterogeneity in etiology, phenotype, outcome, and treatment modalities. Children with genetically confirmed etiology presented with more severe symptoms requiring complex treatment. Octreotide treatment and surgery were used only in children with genetic diagnosis of CHI.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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