Clinical and genetic characteristics and treatment of a patient with permanent neonatal diabetes due to PDX1 mutation: A case report

Ivana Unic Sabasov, Veselin Skrabic, Tanja Kovačević, Roko Škrabić


Objective. Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes. The treatment of PNDM is challenging as it depends predominantly on a genetic diagnosis. Patients with KCNJ11 and ABCC8 mutations are treated with sulphonylurea medications. Patients with INS and other rare mutations (PDX1, PTF11A, EIF2AK3, RFX, etc.) require insulin.

Case report. We report an extremely rare case of a male newborn with intrauterine growth retardation, hyperglycemia, pancreatic hypoplasia, exogenous pancreas insufficiency and duodenal atresia. PNDM was suspected as the patient had undetectable serum levels of insulin and C-peptide. A homozygous mutation in the PDX1 gene was detected when the boy was 11 months old. The only treatment option for this patient was insulin replacement.

Conclusion. An insulin pump was better than subcutaneous insulin analogues injections for controlling glycemia for the patient with a homozygous mutation in the PDX1 gene.


Monogenic diabetes; Croatia; Therapy

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