ESPE Abstracts

Introduction: Hyperinsulinemic hypoglycemia (HH) is characterized by inappropriate insulin secretion from pancreatic β-cells despite low blood glucose levels. The most common mutations causing HH affect the KATP channel genes [ABCC8 (36.8%) and KCNJ11 (5.9%)]. This report shares the experience of transitioning from daily subcutaneous octreotide to long-acting octreotide-LAR in a patient with HH due to a KATP channel mutation.

Case Presentation: An 8.5-year-old girl had been followed for hyperinsulinemic hypoglycemia since the neonatal period. She was born at term weighing 3500 grams. Following postnatal hypoglycemic episodes, she was diagnosed with hyperinsulinemic hypoglycemia. Initially managed with hydrocortisone, diazoxide, and octreotide, she was maintained on octreotide alone. Genetic analysis identified a missense variant c.4463A>G [p.Gln1488Arg (p.Q1488R)] in exon 37 of the ABCC8 gene. At 8 years old, she presented with syncope and was diagnosed with epilepsy, for which antiepileptic treatment was initiated. There was no consanguinity between her parents; her mother had bipolar disorder, and her father had hypothyroidism. On physical examination, her height was 133 cm (0.26 SDS), weight was 30 kg (0.27 SDS), and BMI was 16.9 kg/m² (0.27 SDS). Systemic examination was unremarkable. Review of her blood glucose monitoring logs showed stable glycemia with octreotide at 8 mcg/kg/day in four doses, without episodes of hypo- or hyperglycemia. To improve compliance and quality of life, it was decided, with the family's consent, to transition to octreotide-LAR. The patient was admitted for the transition according to the octreotide-LAR protocol. She started receiving intramuscular octreotide-LAR every 28 days, with continuous glucose monitoring during the transition. After 13 weeks, daily subcutaneous octreotide was discontinued, completing the transition to monthly octreotide-LAR. Glucose sensor data over a month showed regulated blood glucose levels.

Conclusion: Traditional octreotide treatment requires multiple daily injections, which can be burdensome, reduce compliance, and negatively impact quality of life. In this case, continuous glucose monitoring enabled a safe and successful transition to long-acting octreotide-LAR, improving the patient's quality of life. This transition process and outcome are shared to highlight the benefits of octreotide-LAR in managing HH.