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[Hypoglycemia hypersinsulinemic of infancy]

Raphael Del Roio Liberatore Junior1, Carlos Eduardo Martinelli Junior

  • 1Serviço de Endocrinologia Pediátrica, Departamento de Pediatria e Cirurgia Pediátrica, Faculdade de Medicina de São José do Rio Preto, SP, Brasil. liberat@famerp.br

Arquivos Brasileiros De Endocrinologia E Metabologia
|June 10, 2011
PubMed

Insights

Infantile hyperinsulinism (HHI) is a neonatal emergency where the brain lacks energy. This review covers HHI diagnosis across infancy and adolescence, including molecular basis and mutations.

Area of Science:

  • Pediatric Endocrinology
  • Neonatology
  • Molecular Genetics

Context:

  • Infantile hyperinsulinism (HHI) presents as a critical neonatal emergency.
  • Profound hypoglycemia occurs due to excessive insulin secretion, depriving the brain of glucose.
  • Timely diagnosis and management are crucial to prevent neurological damage.

Purpose:

  • To provide a comprehensive overview of hyperinsulinemic hypoglycemia (HH) diagnosis.
  • To extend the diagnostic scope beyond the neonatal period into late infancy and adolescence.
  • To detail the molecular alterations and genetic mutations underlying HH.

Summary:

  • This review examines the diagnosis of hyperinsulinemic hypoglycemia (HH) across different age groups, from neonates to adolescents.
  • It explores the molecular mechanisms and specific genetic mutations responsible for HH.
  • The importance of early diagnosis and understanding genetic underpinnings is highlighted.

Impact:

  • Enhances understanding of HH diagnostic criteria across developmental stages.
  • Facilitates earlier and more accurate diagnosis of HH in infants and adolescents.
  • Contributes to the knowledge base for genetic counseling and targeted therapies for HH.

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