Endocrine Abstracts

Congenital hyperinsulinism (CHI) is a rare but serious disorder characterised by a dysregulated increase in insulin secretion, leading to hypoglycaemia. Existing literature on CHI highlights the importance of early recognition and maintenance of blood glucose levels, due to the risk of neurological damage posed by uncorrected hypoglycaemia. The cases presented highlight the treatment of two brothers who developed neonatal hypoglycaemia due to diffuse CHI resulting from homozygous KCNJ11 variants. These cases demonstrate the challenges in maintaining normoglycaemia in cases of CHI through medical and surgical therapies. The older sibling, Brother 1, underwent pharmacological treatment and a near-total pancreatectomy at 2.5 months. The outcomes of Brother 1’s treatment highlight the limitations of pancreatectomy in the management of diffuse CHI, as he experienced challenges such as continued hypoglycaemic episodes and eventual development of insulin-dependent diabetes. Brother 2 was managed with pharmacological therapies and a long-term feeding regimen via gastrostomy. At 6 years he was able to maintain normoglycaemia with weaning of octreotide therapy. This paper contributes to our understanding of how to best manage diffuse CHI by emphasising the limitations of pancreatectomy and highlighting the adverse long-term outcomes of this surgery – namely ongoing hypoglycaemia, diabetes and pancreatic exocrine insufficiency.