hypoinsulinemic hypoglycemia with hemihypertrophy

info · Genetic

An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2.

Signs and symptoms

Hypoinsulinemia
Bilateral tonic-clonic seizure
Fasting hypoglycemia
Hypoglycemia
Gynecomastia
Truncal obesity
Polyhydramnios
Large for gestational age
Neonatal hypoglycemia
Hemihypertrophy

Also known as: HIHGHH; hypoinsulinemic hypoglycemia and body hemihypertrophy