ABSTRACT

CONCLUSIONS:

In this study, the majority of cases followed with congenital hyperinsulinemic hypoglycemia were diagnosed with hypoglycemic convulsion in the neonatal period and were responsive to diazoxide. The most common variant was detected in the ABCC8 gene.

RESULTS:

Ten patients (6 girls, 4 boys) included in thestudy [median age; 25 (3-183) days]. While the most common symptom was convulsion (Six patients), 30% of the cases were diagnosed during routine screening. Genetic analysis was performed in seven patients. Among the analyzed genes (ABCC8, KCNJ11, GLUD1, HNF4A), four patients had variants in the ABCC8 gene (two patients heterozygous, one patient homozygous, and one patient compound heterozygous). Seven patients were responsive to diazoxide treatment, but the treatment of three patients who could not respond to diazoxide was changed to octreotide. One of these patients showed a heterozygous, the other one showed a homozygousvariant in the ABCC8 gene. Six patients underwent spontaneous remission during the follow-up (median time; 1.5 years). Three of four patients with variants in the ABCC8 gene were diagnosed as transient disease.

MATERIALS and METHODS:

Patients who were followed up in our clinic between 2011-2020 years were included in the study. Clinical, laboratory and genetic information, imaging results, treatment approaches and prognoses were obtained from the medical records.

INTRODUCTION:

Congenital hyperinsulinemic hypoglycemia is a rare disease caused by uncontrolled release of insulin from the pancreas. In this study, we aimed to evaluate the clinical and genetic characteristics and prognosis of the patients with congenital hyperinsulinemic hypoglycemia.