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Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hyperinsulinism due to HNF1A deficiency.
2 publications have been identified in PubMed for hyperinsulinism due to HNF1A deficiency. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).
Louvet I (2026). [PMID: 42100870](https://pubmed.ncbi.nlm.nih.gov/42100870/). *JCI Insight*. [Basic Science / Preclinical]
Maines E (2025). [PMID: 40609522](https://pubmed.ncbi.nlm.nih.gov/40609522/). *Hormone research in paediatrics*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center