Endocrine Abstracts

Introduction: Congenital hyperinsulinism (CHI), is the most frequent cause of persistent hypoglycemia in infancy. Mutations in the ABCC8 gene are responsible for 40–50% of CHI cases. Its management can be extremely complicated. The main goal of the treatment is to maintain normoglycemia, since hypoglycemia during infancy can have severe neurological consequences. Herein, we report 8 year follow up of twin patients who were diagnosed with CHI at neonatal period due to SUR1 (ABCC8) mutation.

Cases: Term male infants were born to consanguineous parents by caesarean section. Maternal antenatal screen was unremarkable. Insulin levels of the patients were 50.9 μU/ml and 51.9 μU/ml during hypoglycemia attacks (20–30 mg/dl). In genetic analysis of both patients, homozygous mutation 2371G>T, E791X, in the ABCC8 gene was identified. Both parents were found to be heterozygous carriers of this mutation. One of the twins responded to diazoxide (20 mg/kg per day) and octreotide (25 mg/kg per day) treatment. The other patient underwent subtotal pancreatectomy (%95) at the age of 60 days; also medical therapy was required after surgery due to persistent hypoglycemia. Pathologic analysis revealed marked increase in endocrine cells in some sections throughout the pancreas. Medical therapy was stopped at 3 years of age in both patients. After 8 years of follow-up, psychomotor development and growth of the patients were normal. Neurological and intellectual abilities were also normal. Pancreas size of the patient who had pancreatectomy was found to be appropriate for his age in Magnetic Resonance Imaging after 8 years.

Conclusion: Despite severe clinical picture in neonatal period, these patients had no need of therapy after 3 years. Neurological and intellectual abilities can be sustained by aggressive hypoglycemia management. These patients may provide an understanding of the prognosis and treatment for patients who carry homozygous mutation 2371G>T, E791X, in the ABCC8 gene.