Proposed Screening for Congenital Hyperinsulinism in Newborns: Perspective from a Neonatal-Perinatal Medicine Group

Area of Science:

• Neonatal Medicine
• Endocrinology
• Biochemistry

Background:

• Neonatal hypoglycemia screening is standard practice.
• Current screening methods may not effectively identify all cases of congenital hyperinsulinism (CHI).
• Delayed diagnosis of CHI can lead to severe neurodevelopmental sequelae.

Purpose of the Study:

• To propose a novel screening protocol for congenital hyperinsulinism (CHI) in newborns.
• To highlight the importance of early CHI detection for preventing adverse outcomes.
• To advocate for integrating CHI screening into existing newborn screening programs.

Main Methods:

• Proposing a new screening approach for CHI in newborns.
• Measuring glucose and β-hydroxybutyrate (BOHB) levels near hospital discharge (around 48 hours post-birth).
• Aligning the proposed CHI screen with the mandated state Newborn Dried Blood Spot Screen.

Main Results:

• Hyperinsulinism is known to suppress ketogenesis, limiting ketone production.
• This suppression provides a biochemical basis for screening.
• The proposed method aims to identify infants with potential CHI based on metabolite levels.

Conclusions:

• A new screening strategy for CHI in newborns is proposed, utilizing glucose and ketone measurements.
• Current neonatal hypoglycemia screening may not meet the criteria for effective screening of CHI.
• Implementing this screen could improve early diagnosis and prevent long-term complications associated with CHI.