A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
Conclusion:
We describe a novel compound heterozygous mutation leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism. This case illustrates challenges associated with diagnosing and managing congenital hyperinsulinism and the importance of genetic testing.
Source: International Journal of Pediatric Endocrinology - Category: Endocrinology Authors: Cassandra BradyAndrew PalladinoIris Gutmark-Little Source Type: research