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ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1547855
Clinical and epidemiological profile of congenital hyperinsulinism in Brazil
Provisionally accepted
Raphael Del Roio Liberatore Junior 1,2*
Anna Luisa Peroni Marques 1 Laura Lucato Dos Santos 1 Thais Milioni Luciano 2- 1 Departamento de Pediatria, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil
- 2 Pediatric Endocrinology Section, Pediatric Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
This study explores the clinical and epidemiological profile of congenital hyperinsulinism (CHI) in Brazil. Using data collected through collaboration with the national CHI patient association, the study highlights diagnostic delays, clinical presentations, and treatment approaches, underscoring significant gaps in healthcare access and awareness. The study reveals a high frequency of misdiagnoses and barriers to early genetic testing and treatment, such as the limited availability of diazoxide, the first line of treatment, and surgical interventions. This study aligns with the aims of Frontiers in Endocrinology by addressing key issues in the diagnosis and management of rare endocrine disorders. It contributes novel insights into the regional challenges faced by CHI patients and their families, offering a foundation for targeted interventions, policy changes, and further research.
Keywords: Writingoriginal draft, Writingreview & editing. Laura Lucato Dos Santos: Writingoriginal draft, Writingreview & editing. Raphael Del Roio Liberatore Junior: Conceptualization, Data curation, Formal analysis, Funding acquisition, investigation, methodology
Received: 18 Dec 2024; Accepted: 25 Mar 2025.
Copyright: © 2025 Liberatore Junior, Marques, Dos Santos and Luciano. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Raphael Del Roio Liberatore Junior, Departamento de Pediatria, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil
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