Syndromic forms of congenital hyperinsulinism [PDF]
Frontiers in Endocrinology, 2023 Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a very heterogeneous condition and represents the most common cause of severe and persistent hypoglycemia in infancy and childhood.
Martin Zenker, Klaus Mohnike, Katja Palm
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Global Registries in Congenital Hyperinsulinism [PDF]
Frontiers in Endocrinology, 2022 Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. There are many areas of need for HI research.
Tai L. S. Pasquini +3 more
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Congenital Hyperinsulinism International: A Community Focused on Improving the Lives of People Living With Congenital Hyperinsulinism [PDF]
Frontiers in Endocrinology, 2022 Congenital hyperinsulinism (HI) is a rare disease affecting newborns. HI causes severe hypoglycemia due to the overproduction of insulin. The signs and symptoms of hypoglycemia in HI babies is often not discovered until brain damage has already occurred.
Julie Raskin +4 more
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Congenital hyperinsulinism and panhypopituitarism: a rare combination [PDF]
Endocrinology, Diabetes & Metabolism Case Reports, 2023 Neonatal hypoglycemia is a serious condition that can have a major impact on the growing neonatal brain. The differential diagnosis of neonatal hypoglycemia is broad and includes hyperinsulinism as well as panhypopituitarism.
Foram Patel, Ginger Darling, Ahmed Torky
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Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease [PDF]
Medical SciencesIndia’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations.
Jaikumar B. Contractor +7 more
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Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network [PDF]
Frontiers in EndocrinologyIntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini +17 more
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The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community. [PDF]
Clin GenetLoss‐of‐function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community. Haplotype analysis subsequently confirmed that p.(Gly111Arg) is a founder variant in the Agarwal population.
Jain V +5 more
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Congenital hyperinsulinism: current status and future perspectives [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 The diagnosis and treatment of congenital hyperinsulinism (CHI) have made a remarkable progress over the past 20 years and, currently, it is relatively rare to see patients who are left with severe psychomotor delay.
Tohru Yorifuji
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Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity [PDF]
Genome MedicineBackground We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett +22 more
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Frontiers in Pediatrics, 2021 Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical.
Elizabeth Rosenfeld +29 more
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