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Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation |
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| Authors: | Inas H Thomas Natinder K Saini Amita Adhikari Joyce M Lee Josephine Z Kasa-vubu Delia M Vazquez Ram K Menon Ming Chen Stefan S Fajans |
| Institution: | Department of Pediatrics and Communicable Diseases (Division of Pediatric Endocrinology), University of Michigan Health Center, Ann Arbor, MI, USA;;Department of Molecular and Integrative Physiology, University of Michigan Health Center, Ann Arbor, MI, USA;;and Department of Internal Medicine (Division of Metabolism, Endocrinology and Diabetes), University of Michigan Health Center, Ann Arbor, MI, USA |
| Abstract: | 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. |
| Keywords: | IPF-1 neonatal diabetes pancreatic agenesis |