Nonsyndromic Genetic Hyperinsulinism Overview

Excerpt

The purpose of this overview is to:

1. 1

   Describe the clinical characteristics of nonsyndromic genetic HI;

2. 2

   Review the causes of nonsyndromic genetic HI and its differential diagnosis in a newborn with hyperinsulinemic hypoglycemia;

3. 3

   Provide an evaluation strategy to identify the genetic cause of nonsyndromic HI in a proband (when possible);

4. 4

   Inform (when possible) medical management of nonsyndromic genetic HI based on genetic cause and evaluation of relatives at risk;

5. 5

   Inform risk assessment and surveillance of at-risk relatives for early detection and treatment of nonsyndromic genetic HI.