Abstract
The transcription factor hepatocyte nuclear factor 4A (HNF4A) plays a key role in insulin secretion and mutations in its encoding gene, HNF4A, have been associated with monogenic diabetes (MODY 1) during adolescence or early adulthood and with transient hyperinsulinemic hypoglycemia during infancy. They are inherited as an autosomal dominant trait, therefore, HNF4A sequencing should be considered in every neonate presenting with macrosomia or persistent hypoglycemia in the first 24 hours after birth, especially when there is a family history of early-onset diabetes. Management of hyperinsulinism includes regular feeding, intravenous glucose and diazoxide, as first-line treatments. Blood glucose levels need regular monitoring to optimally adjust treatment. Continuous glucose monitoring (CGM) systems are not validated for neonates or patients with hyperinsulinism, so finger-prick blood tests are usually used before every meal. We present a case of diazoxide use in a female infant with neonatal hypoglycemia due to HNF4A mutation, where CGM facilitated treatment decisions and detected hyperglycemia as an adverse event, early in the course. Notably, CGM use after hospital discharge contributed significantly to ongoing glucose monitoring and management. We recommend that further studies should be performed to validate CGM use for optimal clinical management of challenging cases, such as this example of early neonatal hyperinsulinemic hypoglycemia due to MODY 1.
Keywords: HNF4A mutation, MODY 1, diazoxide, continuous glucose monitoring, hyperinsulinemic hypoglycemia
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