Endocrine Abstracts

Introduction: Ketotic hypoglycemia (KH), a common cause of hypoglycaemia in young children, is typically a diagnosis of exclusion. Given the increase in referrals of recurrent KH to paediatric endocrine and metabolic services, we aimed to examine the clinical outcomes of KH referrals in a large children’s hospital in the UK.

Methods: Data were collected retrospectively for all patients with KH known to either the paediatric endocrinology or metabolic departments between 2019 and 2024.

Results: Over a 6-year period, a total of 165 children (53% female) with KH were reviewed by tertiary services. Of these, 126 children (76%) were reviewed by the metabolic team, and 39 (24%) by the endocrine team. Median age at referral was 3 years (range: 9 months - 15 years) whilst the reported age of symptom onset ranged from 3 days to 9 years. Neurodevelopmental disorders (13.3%) was a common comorbidity with KH. However, the presence of comorbidities was not associated with an increased risk of recurrence (odds ratio: 0.98 [0.41-2.36]). In 44 children with recurrent hypoglycaemia, gene panel testing identified two children with metabolic diagnoses (phosphoglucomutase 1 deficiency and dihydropyrimidine dehydrogenase deficiency), while 5 children had variants of unknown significance in the glycogen storage disorder IX and monocarboxylate transporter 1 genes. Hypoglycaemia resolution occurred in 83% of endocrine patients by 8 years of age and 95% of metabolic patients by 7 years of age. Short-term continuous glucose monitoring (CGM) was used in 25/39 (endocrine) and 28/126 (metabolic) patients to demonstrate normoglycaemia, providing reassurance prior to discharge. Endocrine patients remained under follow-up for a mean duration of 16 months (range: 1 - 78 months), compared to 48 months (range: 0 – 177 months) for metabolic patients, reflecting significant workload volumes for both services.

Conclusion: The study highlights the clinical heterogeneity and favourable outcomes of ketotic hypoglycaemia in a large cohort of patients referred to tertiary services. Although infrequent, it is important to investigate inborn errors in metabolism in those with persistent and recurrent ketotic hypoglycaemia.