The purpose of this overview is to increase the awareness of clinicians regarding nonsyndromic genetic hyperinsulinism (HI) and its causes and management. The following are the goals of this overview.
Goal 1: Describe the clinical characteristics of nonsyndromic genetic HI.
Goal 2: Review the causes of nonsyndromic genetic HI and its differential diagnosis in a newborn with hyperinsulinemic hypoglycemia.
Goal 3: Provide an evaluation strategy to identify the genetic cause of nonsyndromic HI in a proband (when possible).
Goal 4: Inform (when possible) medical management of nonsyndromic genetic HI based on genetic cause and evaluation of relatives at risk.
Goal 5: Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of nonsyndromic genetic HI.
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