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ORIGINAL RESEARCH article

Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1497579

Congenital hyperinsulinism in the Ukraine: a 10-year national study

Provisionally accepted
Evgenia Globa Evgenia Globa 1*Henrik Thybo Christesen Henrik Thybo Christesen 2Michael Bau Mortensen Michael Bau Mortensen 3Jayne Houghton Jayne Houghton 4Anne Lerberg Nielsen Anne Lerberg Nielsen 5Sönke Detlefsen Sönke Detlefsen 6Sarah Flanagan Sarah Flanagan 7
  • 1 Ukrainian Scientific and Practical Center of Endocrine Surgery, Kyiv, Ukraine
  • 2 Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark
  • 3 Department of Surgery, Odense University Hospital, Odense, Denmark
  • 4 Royal Devon & Exeter NHS Foundation Trust, Exeter, England, United Kingdom
  • 5 Department of Nuclear Medicine, Odense University Hospital, Odense, Denmark
  • 6 Department of Pathology, Odense University Hospital, Odense, Denmark
  • 7 Institute of Biomedical and Clinical Science, Medical School, College of Medicine and Health, University of Exeter, Exeter, England, United Kingdom

The final, formatted version of the article will be published soon.

    Introduction: Congenital Hyperinsulinism (CHI) has not been previously studied in Ukraine. We therefore aimed to elucidate the genetics, clinical phenotype, histological subtype, treatment and long-term outcomes of Ukrainian patients with CHI.Methods: Forty-one patients with CHI were recruited to the Ukrainian national registry between the years 2014-2023. Genetic testing (n=40), 18F-fluorodihydroxyphenylalanin and 68Ga-DOTANOC PET/CT imaging followed by surgical treatment and subsequent histological analysis (n=19) was performed through international collaboration.Results: Pathogenic variants were identified in 19/22 (86.3%) individuals with persistent CHI (p-CHI) and 8/18 (44.4%) with early remission CHI (er-CHI). Pathogenic variants in the K-ATP channel genes were the only identified genetic cause of p-CHI (ABCC8 (n=17) and KCNJ11 (n=2)) with greater genetic heterogeneity observed in those with er-CHI (ABCC8 (n=3), KMT2D (Kabuki Syndrome, n=1), Beckwith-Wiedemann syndrome (n=2) and INSR (Donohue syndrome (n=2)). Histological analysis performed on 19 children with persistent CHI confirmed focal disease in 14 (73.7%), diffuse disease in two (10.5%) and atypical histology in three (15.8%). After surgery, complete recovery was observed in all 14 with focal disease, while relapse occurred in three patients with diffuse or atypical histology.A genetic diagnosis was achieved for 67.5% (27/40) of the cohort with a higher pickup rate observed in those with p-CHI. The genetics and imaging studies enabled subtype-targeted treatment with surgical cure achieved in all individuals with focal disease.

    Keywords: congenital hyperinsulinism, Hypoglycemia, Genes, Treatment, outcomes

    Received: 17 Sep 2024; Accepted: 25 Nov 2024.

    Copyright: © 2024 Globa, Christesen, Mortensen, Houghton, Nielsen, Detlefsen and Flanagan. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Evgenia Globa, Ukrainian Scientific and Practical Center of Endocrine Surgery, Kyiv, Ukraine

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.