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hrp0094p1-68 | Diabetes B | ESPE2021

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

Hewat Thomas , Yau Daphne , Jerome Joseph , Laver Thomas , Houghton Jayne , Shields Beverley , Flanagan Sarah , Patel Kashyap ,

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

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hrp0094p1-75 | Fetal Endocrinology and Multisystem Disorders A | ESPE2021

Congenital hyperinsulinism diagnosed after 12 months can have a monogenic aetiology

Hopkins Jasmin , Childs Alexandra , Hewat Thomas , Patel Kashyap , Houghton Jayne , Johnson Matthew , Laver Thomas , Flanagan Sarah ,

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

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ESPE Abstracts

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

Congenital hyperinsulinism diagnosed after 12 months can have a monogenic aetiology

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