AIMS An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic te...

Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1 (SUR1) regulatory subunit of the pancreatic islet ATP-sensitive K(+) channel (K(ATP) channel) cause both permanent and transient neonatal diabetes. Recently, we have described the novel mechanism where basal Mg-nucleotide-dependent stimulatory action of SUR1 on the Kir6.2 pore is increased. In our present study, we ...

Introduction: Neonatal diabetes is a rare and surprising diagnosis, with many complications and difficult management by the medical team. Objectives: Management of the diabetes mellitus new-born in our maternity. Matherial and methods:Analysis of one of the rare cases of diagnosed neonatal diabetes. Conclusions:Given the rarity of such cases, this event can guide the medical care team consistin...

BACKGROUND An interaction between genetic susceptibility and environmental factors is thought to be involved in the aetiology of type 1 diabetes. The aim of this study was to investigate maternal and neonatal risk factors for type 1 diabetes in children under 15 years old in Grampian, Scotland. METHODS A matched case-control study was conducted by record linkage. Cases (n = 361) were children...

Diabetes mellitus is a metabolic disease characterised by chronically high glucose levels. Genetic factors have been implicated in the aetiology following mutations in a single gene. An extremely rare form of diabetes mellitus is monogenic diabetes, a subset of which is permanent neonatal diabetes, and is usually suspected if a child is diagnosed with diabetes at less than 6 months of age. We p...

CONTEXT Neonatal diabetes is a rare disorder with an incidence of 1 in 215,000-500,000 live births with 50% of them having permanent neonatal diabetes mellitus. CASE REPORT We present a case of permanent neonatal diabetes mellitus due to a C96Y (c.287G>A; p.Cys96Tyr) heterozygous mutation in the insulin (INS) gene. Both the patient and his father (who had childhood-onset insulin-requiring dia...

OBJECTIVE—Neonatal diabetes mellitus is a rare form of diabetes diagnosed in infancy. Nearly half of patients with permanent neonatal diabetes have mutations in the genes for the ATP-sensitive potassium channel (KCNJ11 and ABCC8) that allow switching from insulin to sulfonylurea therapy. Although treatment conversion has dramatic benefits, the cost-effectiveness of routine genetic testing is un...

BACKGROUND Neonatal diabetes mellitusis a rare disorder with an incidence of 1 in 2,60,000 live births. METHODS Retrospective analysis of clinical and genetic profile of children admitted with neonatal diabetes mellitus in a tertiary-care hospital in Chennai, India over 11 years. RESULTS Ten children were diagnosed with neonatal diabetes of whom 9 had permanent neonatal diabetes mellitus. T...

DEND syndrome is a very rare syndrome of permanent neonatal diabetes mellitus, with an incidence of < 1/1000,000. It is defined as a triad of developmental delay, epilepsy, and neonatal diabetes. We report the case of a 9-month infant girl who presented with the most severe form of neonatal diabetes mellitus spectrum along with developmental delay and epilepsy. Genetic mutation testing confirme...