Endocrine Abstracts

BackgroundNeonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first six months of life. Eight patients with neonatal diabetes presenting to a single centre were studied for clinical presentation, genetics and treatment outcomes.

Objective: Eight children (2 f/6m) presenting to a single centre in Turkey were studied for correlation of disease with clinical features and genetics, suitability of current treatment regimens and treatment outcomes.

Method: Genetic studies were performed on all clinically diagnosed patients. Demographic and laboratory data (HbA1C, blood glucose, liver and kidney function tests and autoimmune markers) were recorded from the files.

Results: Age at diagnosis ranged from 1 day to 1 month. Genetic mutations were identified in five of the eight children. One children had mutation in KCNJ11 gene, 4 children (3 of them from the same family) had PTFA1 mutation. Pancreatic exocrine dysfunction was observed in 5 patients, 4 of these were with mutations in the distal PTF1A enhancer and one of them wasn’t detected any mutations. Seven patients were born small for gestational age to consanguineous parents. Except for the case with Dend syndrome, single insulin glargine was started firstly and added rapid acting insüline to this theraphy during follow-up. Insulin pump was inserted in 3 cases. One of patients’ fathers was also homozygous for the PTF1A mutation, whilst his partner and the parents of the other patient were heterozygous carriers. In the case with DEND sydrome (delayed KCNJ11 mutation, p.Cys166Tyr (c.497G>A), was identified. This patient was born to nonconsanguineous parents with normal birth weight. The majority of neonatal diabetes patients with KCNJ11 mutations will respond to sulphonylurea treatment. Therefore Glibenclamide, an oral antidiabetic of the sulphonylurea group, was started. This treatment regimen relatively improved blood glucose levels and neurological symptoms in the short term.

Conclusion: With proper genetic analysis, basic research findings can be translated into accurate treatment decisions and good clinical outcomes in neonatal diabetes and especially, the outcomes of transition onto sulphonylurea can be improved. Although neonatal diabetes mellitus can be diagnosed clinically, genetic analysis is important since it is a guide for the treatment and for prognosis.