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Clinical and epidemiological profile of congenital hyperinsulinism in Brazil

Raphael D Liberatore Junior1,2, Anna L Marques1, Laura L Dos Santos1

  • 1Departamento de Pediatria, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil.

Frontiers in Endocrinology
|April 24, 2025
PubMed

Insights

Congenital hyperinsulinism (CHI) in Brazil often presents early, but delayed diagnoses and limited genetic testing hinder treatment. Improved awareness and access to specialized care are crucial for better outcomes in children with CHI.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Congenital hyperinsulinism (CHI) is a leading cause of persistent hypoglycemia in children, potentially causing severe neurological damage.
  • Understanding the clinical and epidemiological landscape of CHI in Brazil is essential for improving patient care.

Purpose of the Study:

  • To characterize the clinical and epidemiological profile of congenital hyperinsulinism (CHI) in Brazil.
  • To identify challenges in diagnosis, genetic testing, and treatment for CHI patients in Brazil.

Main Methods:

  • A cross-sectional study involving caregivers of 68 CHI patients in Brazil.
  • Data collected via a structured questionnaire on clinical presentation, diagnostics, genetics, and treatments.
  • Utilized a questionnaire adapted from the HI Global Registry.

Main Results:

  • In 60% of cases, symptoms of CHI appeared before six months of age, with 35.5% initially misdiagnosed.
  • Genetic testing was performed in 43 patients, identifying pathogenic variants in only 7; many were unaware of results.
  • Diazoxide was the primary treatment, but 13% of patients required pancreatectomy; 44% experienced developmental delays.

Conclusions:

  • Significant barriers in Brazil include delayed diagnosis and restricted access to genetic testing and specialized treatments for CHI.
  • Enhanced awareness, early detection strategies, and improved access to genetic and therapeutic resources are vital for optimizing outcomes in pediatric CHI patients.
Abstract

Keywords:
childrencongenital hyperinsulinsmhyperinsulinism hypoglycemiahypoglycemianewborn

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