EYES2019 7th ESE Young Endocrinologists and Scientists (EYES) Meeting Poster Presentations (46 abstracts)
Congenital hyperinsulinism due to a novel activating glucokinase mutation: a case report and literature review
Nikitas S Skarakis 1 , Christina Kanaka-Gantenbein 2 , Dimitra Dimopoulou 1 , Amalia Sertedaki 2 & Feneli Karachaliou 1
1Third Department of Pediatrics, Attikon University Hospital, National and Kapodistrian University of Athens, Athens, Greece; 2Division of Endocrinology, Metabolism and Diabetes, 1st Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
Background: Congenital Hyperinsulinism (CH) or, as previously named, Hyperinsulinemic Hypoglycemia (HH), constitutes a major cause of persistent and recurrent hypoglycemia, especially in the neonatal period, showing notable phenotypical heterogeneity among affected subjects. Mutations in genes implicated in insulin release, represent the majority of the cases of CH. Activating mutations of the Glucokinase gene (GCK) are responsible for mild forms of hypoglycemia usually easily medically managed.
Case presentation: We present a patient with neonatal hypoglycaemia, due to hyperinsulinism. Genetic study was performed for the investigation of mutations associated with hyperinsulinemic hypoglycemia. Analysis revealed that both the mother and the child were heterozygotes for the activating novel mutation p. Val71 Ala in exon 3 of the GCK gene.
Conclusions: GCK gene mutations result in varying phenotypic characteristics and responsiveness to diazoxide depending on the type of activating mutation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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