BACKGROUND Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic co...

Mutations in the pancreatic ATP-sensitive K(+) channel (K(ATP) channel) cause permanent neonatal diabetes mellitus (PNDM) in humans. All of the K(ATP) channel mutations examined result in decreased ATP inhibition, which in turn is predicted to suppress insulin secretion. Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabete...

Diabetes mellitus is very rare in infants. Cases in recent years have been reported by Schwartzman, Crusius and Beirne (1947), by Bertoye and Stefani (1954) and by Keidan (1955), who reviewed the hitherto published cases of infantile diabetes. In Keidan's report 79 cases of infantile diabetes are mentioned, the neonatal cases attracting special interest on account of certain clinical characteri...

Diabetes mellitus is very rare in infants. Cases in recent years have been reported by Schwartzman, Crusius and Beirne (1947), by Bertoye and Stefani (1954) and by Keidan (1955), who reviewed the hitherto published cases of infantile diabetes. In Keidan's report 79 cases of infantile diabetes are mentioned, the neonatal cases attracting special interest on account of certain clinical characteri...

Adenosine triphosphate (ATP)-sensitive potassium (KATP) channels in pancreatic β-cells play a crucial role in insulin secretion and glucose homeostasis. These channels are composed of two subunits: a pore-forming subunit (Kir6.2) and a regulatory subunit (sulphonylurea receptor-1). Recent studies identified large number of gain of function mutations in the regulatory subunit of the channel whic...

Dominant negative mutations in the insulin gene are the second most common cause of permanent neonatal diabetes. However, variation in severity and penetrance of neonatal diabetes, as in other complex genetic diseases, cannot be accounted for by known “disease” mutations. In a novel approach to this problem, we have utilized the genetic tools available in Drosophila to model the effects of the ...

background: untreated or poorly controlled gestational diabetes can cause serious complications for mother and newborn. glibenclamide is rarely used in treating mothers with this disease. this study aimed at comparing the effect of glibenclamide and insulin on neonatal outcomes in women with gestational diabetes mellitus. methods: in this randomized controlled clinical trial, 249 pregnant women...

OBJECTIVE Two novel mutations (E1506D, E1506G) in the nucleotide-binding domain 2 (NBD2) of the ATP-sensitive K(+) channel (K(ATP) channel) sulfonylurea receptor 1 (SUR1) subunit were detected heterozygously in patients with neonatal diabetes. A mutation at the same residue (E1506K) was previously shown to cause congenital hyperinsulinemia. We sought to understand why mutations at the same resi...

Macrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of pregnant women with diabetes and in congenital hyperinsulinaemia is mediated by increased foetal insulin secretion. We assessed the in utero and neonatal role of two key regulators of pancreatic insulin secretion ...

Neonatal diabetes mellitus is a rare form of insulin dependent diabetes mellitus that present within the first month of life, lasting at least two weeks and requiring insulin therapy. Intrauterine growth restriction, failure to thrive, fever, dehydration, hyperglycemia and acidosis with or without ketonuria are the clinical features of the disease. We report four cases of neonatal diabetes mell...