Evidence map›Paper›PMID 40705962›Full record

ArticleThe Journal of clinical endocrinology and metabolism2026

Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors.

Andrea Widmer, Urs Zumsteg, Gabor Szinnai, Isabel Filges, Stephanie Meier, Julie De Geyter, Kwadwo Antwi, Damian Wild, Jean-Marc Nuoffer, Emanuel Christ

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Article in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Andrea WidmerDivision of Endocrinology, Diabetes, and Metabolism, University Hospital Basel, Basel CH-4031, Switzerland.ORCID 0009-0006-3985-3379
Urs ZumstegDivision of Endocrinology, Diabetes, and Metabolism, University Children's Hospital Basel, Basel CH-4031, Switzerland.
Gabor SzinnaiDivision of Endocrinology, Diabetes, and Metabolism, University Children's Hospital Basel, Basel CH-4031, Switzerland.ORCID 0000-0003-0559-2597
Isabel FilgesMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel CH-4031, Switzerland.
Stephanie MeierMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel CH-4031, Switzerland.
Julie De GeyterMedical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel CH-4031, Switzerland.
Kwadwo AntwiDivision of Nuclear Medicine, University Hospital Basel, Basel CH-4031, Switzerland.
Damian WildDivision of Nuclear Medicine, University Hospital Basel, Basel CH-4031, Switzerland.ORCID 0000-0002-8135-5350
Jean-Marc NuofferDivision of Laboratory Medicine, University Hospital Berne, Inselspital, Bern CH-3010, Switzerland.
Emanuel ChristDivision of Endocrinology, Diabetes, and Metabolism, University Hospital Basel, Basel CH-4031, Switzerland.ORCID 0000-0002-5604-4606

Funding

Desirée and Niels Yde Foundation 389-12Swiss National Science Foundation 320030-152938
6 · The paper itself

Abstract

backgroundThe most common cause of endogenous hyperinsulinemic hypoglycemia in neonates [congenital hyperinsulinemic hypoglycemia (CHH)] is different monogenic forms of gene mutations. About 50% of the mutations are known. We present a new mutation within the short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADH) gene causing CHH in 2 related patients.

methodsThe course of 2 consanguineous patients with CHH are presented with a follow-up of >30 years. NextSeq 500 sequencing was performed and confined on known genes with autosomal recessive inheritance, namely ABCC8 (MANE Select: NM_00352.6), HADH (MANE Select: NM_005327.7), and KCNJ11 (MANE Select: NM_00525.4). Acylcarnitine profiles were measured and 68Ga-DOTA exendin positron emission tomography/computer tomography was performed.

resultsCHH was diagnosed in both patients in the neonatal period. A therapy with diazoxid was initiated, which initially stabilized the disease in both children. With advancing age, more hypoglycemic events occurred with an increase in carbohydrate intake, leading to obesity in both patients. In addition to diazoxide, somatostatin analogues were successfully added in adulthood. A genetic analysis documented a new homozygote mutation in the HADH gene (HADH-variant c.796G > T). An acylcarnitine profile showed an increased plasma butyryl-carnitine, consistent with a dysfunction of the HADH enzyme. 68Gallium-DOTA-exendin showed an increased uptake in the whole pancreas in both patients.

conclusionClinical presentation, biochemical workup, and therapeutical response to diazoxide and somatostatin analogues are consistent with previous reports of HADH mutations. The overexpression of glucagon-like peptide 1 receptors in this context warrants further research.

Indexed as

Congenital HyperinsulinismGlucagon-Like Peptide-1 ReceptorMutationPancreasDiazoxideFemaleHumansInfantInfant, NewbornMaleDiazoxideGLP1R protein, humanGlucagon-Like Peptide-1 Receptorcongenital hyperinsulinemic hypoglycemiaGLP-1 receptor imagingHADH mutation

Identifiers

PMID40705962
PMCPMC12819870

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