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. 2025 Apr 9:16:1547855.
doi: 10.3389/fendo.2025.1547855. eCollection 2025.

Clinical and epidemiological profile of congenital hyperinsulinism in Brazil

Raphael D Liberatore Junior  1   2 , Anna L Marques  1 , Laura L Dos Santos  1 , Thais M Luciano  2
Affiliations

Clinical and epidemiological profile of congenital hyperinsulinism in Brazil

Raphael D Liberatore Junior et al. Front Endocrinol (Lausanne). .

Abstract

Introduction: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in children, often leading to severe neurological complications. Objective: This study aimed to describe the clinical and epidemiological profile of CHI in Brazil.

Methods: A cross- sectional study was conducted with caregivers of CHI patients affiliated with the Associação do Hiperinsulinismo Congênito do Brasil. Data were collected via a structured questionnaire adapted from the HI Global Registry, covering clinical presentation, diagnostic pathways, genetic findings, and treatment strategies.

Results: Caregivers of 68 patients participated. Symptoms appeared before six months of age in 60% of cases, but 35.5% initially received incorrect diagnoses. Genetic testing was performed in 43 patients, but pathogenic variants were identified in only 7 cases, while the majority (31) was not aware of their results. Diazoxide was the most used medication, though 13% required pancreatectomy. Developmental delays were reported in 44% of cases.

Conclusions: Delayed diagnosis and limited access to genetic testing and specialized treatments remain significant barriers in Brazil. This study underscores the need for improved awareness, early recognition strategies, and expanded access to genetic and therapeutic resources to optimize patient outcomes.

Keywords: children; congenital hyperinsulinsm; hyperinsulinism hypoglycemia; hypoglycemia; newborn.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Distribution of patients by birth region in Brazil.
Figure 2
Figure 2
Distribution of age at first clinical signs and clinical suspicion in patients with congenital hyperinsulinism.
Figure 3
Figure 3
Frequency of reported symptoms associated with hypoglycemia in patients with congenital hyperinsulinism.
See this image and copyright information in PMC

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