Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8

Adele Figuccia1, Giuliana Vitaliti2, Claudia Avanti1

  • 1Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities, University of Palermo, Palermo, ITA.

Cureus
|March 23, 2026
PubMed

Insights

Persistent neonatal hypoglycemia linked to KCNJ11 and ABCC8 gene mutations can be challenging to treat. Octreotide showed promise in stabilizing glycemic levels when other treatments failed, highlighting the importance of genetic testing and targeted management.

Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal Medicine

Background:

  • Persistent neonatal hypoglycemia is a serious condition.
  • Mutations in KCNJ11 and ABCC8 genes cause defects in ATP-sensitive potassium channels, leading to hyperinsulinism.
  • Non-specific symptoms can delay diagnosis.

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