Transient neonatal diabetes mellitus

Abstract

Transient neonatal diabetes mellitus (TNDM) is a rare, monogenetic type of diabetes mellitus that presents itself soon after birth or within the first 6 months . Neonates present with growth retardation, which reflects a prenatal deficiency of insulin secretion since insulin promotes intrauterine development and diabetes in the first weeks of life . Apparent remission occurs by 12 weeks, but there is a tendency for children to develop diabetes again later in life, usually around puberty (about 50 % of patients) . The genetic cause has been uncovered: the majority of cases result from anomalies in an imprinted region on chromosome 6 (6q24; 70 %) which results in an overexpression of imprinted genes located there . Therefore, all patients diagnosed with diabetes under 6 months of age (or under 12 months of age when islet autoantibodies are missing) should undergo genetic testing for NDM . Diabetes presents itself more frequently as an isolated condition, but additionally, some patients show a variety of extra pancreatic clinical features . Identification of children with monogenetic TNDM and the underlying genetic basis can improve their clinical care by anticipating the expected clinical course of the condition and finding the most appropriate (pharmacological) treatment . Apart from insulin and depending on the underlying genetic cause it is possible to apply oral antidiabetic agents (e . g . sulfonylurea tablets) in patients with certain mutations.