Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.

ABSTRACT:

Introduction

Congenital hyperinsulinism (CHI) is a heterogeneous disorder of insulin dysregulation, leading to hypoglycemia. This study describes the clinical characteristics, genetics, and management of CHI in Argentina.

Methods

We retrospectively reviewed 70 probands diagnosed with CHI (2008-2021) at multiple centres across Argentina. Clinical, biochemical, imaging, and treatment data were analyzed. Genetic testing was performed in 49 probands using Sanger and targeted next-generation sequencing of CHI-related genes.

Results

Transient CHI was identified in 23/70 (33%) probands, with a median duration of 2 months. Risk factors for perinatal stress-induced hyperinsulinism (PSHI) were present in 85% of transient cases. Persistent CHI was diagnosed in 44/70 (63%) indivi

SUBMITTER: Pacheco G 

PROVIDER: S-EPMC12364331 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature