Endocrine Abstracts

JOINT863

Introduction: Congenital hyperinsulinism (CHI) is a disease group characterized by inappropriate insulin secretion leading to hypoglycemia. Genetic testing helps diagnose diseases, select effective treatments, and provide genetic counseling for families. Disease-causing single nucleotide variants affecting more than 30 genes are reported to cause persistent hyperinsulinism. F-DOPA PET CT imaging is also used to identify patients who may require surgical treatment. Medical treatment of hyperinsulinism includes medications such as diazoxide, somatostatin analogues, calcium channel blockers, and glucagon. We would like to review six cases experienced in our hospital and share information on appropriate treatment for this condition.

Cases: There were 6 patients with persistent congenital hyperinsulinism, 3 were diagnosed with hyperinsulinemia in the neonatal period due to hypoglycemia that occurred on the day of birth, and 3 were diagnosed with congenital hyperinsulinism after visiting the hospital due to convulsions and hypoglycemia after infancy. All 6 patients started treatment with diazoxide, and 4 patients continued treatment with diazoxide, but 1 patient developed significant pulmonary hypertension while taking diazoxide and was changed to octreotide, and the remaining 1 patient changed to octreotide because his blood sugar was not sufficiently controlled with diazoxide, but could be changed back to diazoxide at 3 years of age and continued to take diazoxide until the age of 8. In the genetic panel test, no mutations were found in 2 patients, and ABCC8 gene mutations were found in 3 patients. One patient with an ABCC8 mutation stopped taking diazoxide at age 8, was diagnosed with diabetes mellitus at age 13, and is currently taking oral hypoglycemic agents. F-dopa PET-CT was performed to two patients in whom no genetic mutation was detected, and both were confirmed to have diffuse type of CHI.

Conclusions: Diazoxide is an approved oral drug for the treatment of hyperinsulinism, despite the possibility of rare but serious side effects such as pulmonary edema or hypertension. Serious side effects including pulmonary hypertension should be kept in mind when administered to neonates. The clinical manifestations of permanent congenital hyperinsulinism are diverse, so careful attention is needed to ensure appropriate treatment.