Endocrine Abstracts

JOINT803

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in neonates and infants, posing significant challenges in management. Hypoglycemia during the neonatal period is particularly difficult to control due to the severity and variability of the disease. While medical treatments such as diazoxide or octreotide are often first-line, they fail in severe or diazoxide-unresponsive cases, necessitating surgical intervention, such as partial or near-total pancreatectomy. Long-term outcomes of these treatments vary significantly, impacting growth, metabolic control, and neurodevelopment.

Objective: To compare the outcomes of medical vs surgical treatments in managing persistent neonatal hypoglycemia caused by CHI, focusing on growth, metabolic, and developmental outcomes.

Methods: This review consolidates data from 20 studies published between 1990 and 2023, involving over 2,000 patients with CHI. Studies were evaluated based on treatment modalities (medical or surgical), long-term outcomes related to growth, metabolic health, and neurodevelopment, and genetic correlations.

Results: • Growth Outcomes: Patients on medical therapy generally demonstrated normal growth trajectories, provided hypoglycemia was well-controlled. Surgical interventions, particularly near-total pancreatectomy, resulted in significant growth impairments in some studies. For instance, Soliman et al. (1998) reported height scores of -2.57 SD, reflecting growth retardation, while most patients in Beltrand et al. (2012) maintained normal growth.

• Metabolic Outcomes: Medical therapy successfully managed hypoglycemia in approximately 50-71% of patients, with diazoxide efficacy varying based on genetic mutations. Surgical treatments resolved hypoglycemia in 97% of focal CHI cases but were less effective in diffuse CHI, with 50% experiencing persistent hypoglycemia post-surgery. However, near-total pancreatectomy carried a high risk of insulin-dependent diabetes (40-96%) and exocrine insufficiency.

• Developmental Outcomes: Neurodevelopmental delays were observed in both groups, particularly in patients with prolonged or inadequately controlled hypoglycemia. Surgical patients exhibited higher rates of neurobehavioral deficits (up to 55% in Rasmussen et al., 2020), while early and effective medical management mitigated these risks in many cases.

Conclusion: Management of CHI remains challenging, with both medical and surgical treatments presenting unique benefits and risks. Medical therapy is effective for many cases but is limited in severe, diazoxide-unresponsive CHI. Surgical intervention, while curative in focal disease, is associated with long-term complications, including diabetes and neurodevelopmental delays. Early diagnosis, individualized treatment plans, and multidisciplinary care are essential to optimize outcomes. Future advancements in genetic analysis and novel therapies are urgently needed to improve the prognosis for these patients.