Congenital hyperinsulinism (CHI) is a rare disease of infants characterized by presence of functionally defective nonneoplastic beta-cells with inappropriate (over-) secretion of insulin, leading to life-threatening hypoglycemia. CHI is a major cause of hypoglycemic brain injury with mental retardation, epilepsy and cerebral palsy.

CHI has an incidence of 1 in 50 000 live births and can be divided into two major sub forms, a focal (40%-50%) and a diffuse one (50%-60%).

While for the focal form cure is possible by surgical resection (if the focus can be identified), diffuse CHI is more difficult to treat as a consequence of the distribution of diseased beta cells throughout the pancreas.
In order to determine the optimal therapeutic approach, patients are characterized by genetic testing. Some kinds of CHI respond to diazoxide treatment. However, the most common identifiable genetic cause of CHI often aren’t responsive to diazoxide (80%) and thus require surgical intervention with near-total pancreatectomy (up to 98%) resulting in life-long diabetes mellitus and pancreatic exocrine insufficiency.

Surgical treatment of CHI is accompanied by considerable morbidity (up to > 40%); however, in many cases surgery only helps to reduce hypoglycemia without achieving complete cure. This condition requires continued medical treatment which also has considerable side effects so that to date, cure without side effects or morbidity cannot be achieved for many if not most patients.

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