Neonatal Diabetes Mellitus: The Impact of Molecular Diagnosis

Abstract

have disclosed no financial relationships relevant to this article. This commentary does contain a discussion of an unapproved/ investigative use of a commercial product/device. AbstractNeonatal hyperglycemia has multiple causes, some of which are common (sepsis, stress, phenytoin or glucocorticoid administration) and others of which are more rare, including transient neonatal diabetes and mutations of sulfonylurea receptors, which require molecular diagnosis. Many infants identified with the latter condition may respond well to oral sulfonylurea medications. We describe an infant in whom molecular diagnosis permitted such therapy as well as a new diagnosis for the mother, who had been insulin-dependent for 17 years. In addition to aberrant expression of imprinted genes on chromosome 6q24 for transient neonatal diabetes, molecular diagnosis offers a rationale for oral hypoglycemic agents (off-label use) that may improve the lives of affected infants.Objectives After completing this article, readers should be able to:1. List causes of neonatal diabetes mellitus. 2. Describe the phenotypic features of permanent neonatal diabetes mellitus. 3. Review the gene mutations associated with permanent neonatal diabetes mellitus.

Neonatal Hyperglycemia due to Transient Neonatal Diabetes Mellitus in Puerto Rico

“…There are two subtypes of neonatal diabetes mellitus: permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM) [1, 3]. Transient neonatal diabetes mellitus (TNDM) accounts for 50–60% of NDM cases and is associated with mutations of sulfonylurea receptors at chromosome 6q24 [1, 3, 6].…”

“…Neonatal hyperglycemia is a metabolic disorder found in the neonatal intensive care units [1]. There are several and different etiologies for neonatal hyperglycemia with different clinical pictures and treatments [2].…”

“…Neonatal diabetes mellitus (NDM) is a very uncommon cause of hyperglycemia in the newborn, occurring in 1 in every 300,000 to 400,000 live births [1, 3, 4]. NDM presents as insulin requiring persistent hyperglycemia occurring in the first 6 postnatal months, associated with insufficient production of endogenous insulin [1, 3].…”

“…NDM presents as insulin requiring persistent hyperglycemia occurring in the first 6 postnatal months, associated with insufficient production of endogenous insulin [1, 3]. NDM is not an autoimmune disorder as insulin-dependent diabetes mellitus in childhood [1, 3]. The insulinopenia of NDM results from abnormal pancreatic islet development, decreased B-cell mass, or B-cell dysfunction [3].…”

“…Additionally, they may present with failure to thrive, macroglossia, umbilical hernia, malformations of the brain, heart, or kidneys, hypotonia, deafness, and neurodevelopmental delay [1, 3, 4]. …”