Congenital hyperinsulinism (CHI) is usually not a disease that is first on the list as a diagnosis in the newborn. If a newborn infant presents with macrosomia, seizures, trem-ulousness, hypotonia, cyanosis, or hypothermia, it is challenging to think of a disease with an incidence of 1 in 50,000 live births. CHI is characterized by inappropriate secretion of insulin by the beta cells of the islets of Langer-hans. It is an enigmatic disease with many facets. Hypogly-cemia of the newborn can be transient. If CHI occurs later in infancy or childhood, hypoglycemia usually is less severe, and the diagnosis is often delayed. CHI exhibits unique symptomatology but can have many causes. The clinical course cannot be predicted because some instances are self-limiting with spontaneous cure, some result in severe brain damage if not properly treated, and some result in spontaneously developing diabetes. Many children with CHI remain dependent on medication for years with severe side effects, or they can discontinue hyperglycemic medication, but it comes with a price of an equally worse disease: diabetes. Yet fundamental advances have been achieved in the last 20 years.
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