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Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF‐1 Pro63fsX60 mutation
Author(s) -
Thomas Inas H,
Saini Natinder K,
Adhikari Amita,
Lee Joyce M,
Kasavubu Josephine Z,
Vazquez Delia M,
Me Ram K,
Chen Ming,
Fajans Stefan S
Publication year - 2009
Publication title -
pediatric diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.678
H-Index - 75
eISSN - 1399-5448
pISSN - 1399-543X
DOI - 10.1111/j.1399-5448.2009.00526.x
Subject(s) - medicine , diabetes mellitus , pancreas , agenesis , mutation , endocrinology , exocrine pancreatic insufficiency , pediatrics , gastroenterology , gene , surgery , genetics , biology
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.