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Congenital hyperinsulinism in the Ukraine: a 10-year national study.
Front Endocrinol (Lausanne)
January 2025
Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, United Kingdom.
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.
Case report: Duplication of the gene is a novel cause of nesidioblastosis: evidence from a case with Silver-Russell syndrome-like phenotype related to chromosome 7.
Front Endocrinol (Lausanne)
December 2024
Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Osaka, Japan.
Silver-Russell syndrome (SRS) is a syndrome characterized by prenatal and postnatal growth retardation, facial features, and body asymmetry. SRS is often complicated with hypoglycemia, whose etiology is unclear. We describe the clinical course of 25-year-old man with hypoglycemia.
View Article and Find Full Text PDFManagement of Neonatal Hyperinsulinemic Hypoglycemia: Trends Over Nine Years.
R I Med J (2013)
January 2025
Division of Pediatric Endocrinology, Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, RI.
Background: With increasing use of diazoxide for hyperinsulinemic hypoglycemia (HH), reporting of serious side effects of diazoxide such as pulmonary hypertension (PHT) increased.
Methods: Charts of all children diagnosed with HH during the study period and evaluated by Pediatric Endocrinology division of the Hasbro Children's Hospital were reviewed. We analyzed diazoxide use among infants with HH with focus on infants born small for gestational age (SGA) and preterm infants.
Loss-of-function (LOF) mutations in KATP channels cause hyperexcitability and insulin hypersecretion, resulting in congenital hyperinsulinism (CHI). Paradoxically, despite the initial insulin hypersecretion, many CHI cases, as well as KATP knockout (KO) animals, eventually 'crossover' to undersecretion and even diabetes. Here we confirm that Sur1 KO islets exhibit higher intracellular [Ca2+] ([Ca2+]i) at all [glucose], but show decreased glucose-stimulated insulin secretion.
View Article and Find Full Text PDFMild Congenital Hyperinsulinism Caused by Mutation in Human Gene.
JCEM Case Rep
December 2024
Endocrinology Research Centre, Moscow, 117036, Russian Federation.
Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the () gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course.
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