Endocrine Abstracts

Neonatal diabetes, is monogenic and can be due to different mutations. Here we report two patients with neoanatal diabetes, with two different mutations and treatments.

Case 1 was a female infant of consanguineous parents born at 37 weeks of gestation with a birth weight of 1900 g. After birth she was followed for respiratory distress and hyperglycemia. Her blood glucose was controlled with glargine insulin and with rapid acting insulin when needed. Her physical examination was normal except hip dysplasia. A homoxygous g.23508363A > G mutation was identified which is predicted to result in decreased PTF1A expression during pancreatic development.

Case 2 was a male infant of nonconsanguineous parents born at 35 weeks of gestation with a birth weight of 3400 g. After birth he was followed for seizures and hyperglycemia. He had hypotonia and decreased muscle strength. Glargine insulin was started with Humalog insulin when needed. His convulsions continued unrelated with his blood glucose levels. A heterozygous previosly reported KCNJ11 missense mutation, p.C166Y was identified which is predicted to affect the Kir6.2 subunit of the KATP channel. Glibenclamid belonging to sulfanylurea group was started. In the follow up his glibenclamid dose was increased while insulin dose was decreased. With this treatment regimen his blood sugar levels were controlled and although not very significant a relative improvement in his neurological status was observed.

In neonatal diabetes, genetic analysis is relevant, regarding to the mutation, treatment and prognosis can be determined.