The role of pancreatic imaging in monogenic diabetes mellitus.

In neonatal diabetes mellitus resulting from mutations in EIF2AK3, PTF1A, HNF1B, PDX1 or RFX6, pancreatic aplasia or hypoplasia is typical. In maturity-onset diabetes mellitus of the young (MODY), mutations in HNF1B result in aplasia of pancreatic body and tail, and mutations in CEL lead to lipomatosis. The pancreas is not readily accessible for histopathological investigations and pancreatic imaging might, therefore, prove important for diagnosis, treatment, and research into these β-cell diseases. Advanced imaging techniques can identify the pancreatic features that are characteristic of inherited diabetes subtypes, including alterations in organ size (diffuse atrophy and complete or partial pancreatic agenesis), lipomatosis and calcifications. Consequently, in patients with suspected monogenic diabetes mellitus, the results of pancreatic imaging could help guide the molecular and genetic investigation. Imaging findings also highlight the critical roles of specific genes in normal pancreatic development and differentiation and provide new insight into alterations in pancreatic structure that are relevant for β-cell disease.