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Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation

2009; Wiley; Volume: 10; Issue: 7 Linguagem: Inglês

10.1111/j.1399-5448.2009.00526.x

1399-5448

Inas H. Thomas, Natinder Saini, Amita Adhikari, Joyce M. Lee, Joséphine Z. Kasa-Vubu, Delia M. Vázquez, Ram K. Menon, Ming Chen, Stefan S. Fajans,

Metabolism, Diabetes, and Cancer

Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very rarely in GCK or insulin promotor factor-1 (IPF-1) genes. We report a patient with permanent neonatal diabetes mellitus and severe exocrine pancreatic insufficiency. Ultrasound examination revealed pancreatic agenesis with a suggestion of a small amount of tissue in the head of the pancreas. Genetic testing revealed that the neonate had a homozygous Pro63fsX60 IPF-1 mutation. This is the second reported case of neonatal diabetes mellitus secondary to a homozygous mutation in the IPF-1 gene and supports the previously proposed biological role of IPF-1 in the pancreatic development in human.