Conditions / Genetic
familial hyperinsulinemic hypoglycemia 2
info · Genetic
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.
Signs and symptoms
- Hyperinsulinemic hypoglycemia
- Nesidioblastosis
- Large for gestational age
- Pancreatic islet-cell hyperplasia
- Hypoglycemia
Also known as: Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency; HHF2; hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia