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

Pediatr Diabetes. 2009 Nov;10(7):492-6. doi: 10.1111/j.1399-5448.2009.00526.x. Epub 2009 Jun 3.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Birth Weight
  • Blood Glucose / analysis
  • Body Height
  • Body Weight
  • Cesarean Section
  • Chromosomes, Human, Pair 6*
  • Diabetes Mellitus / blood
  • Diabetes Mellitus / drug therapy
  • Diabetes Mellitus / etiology
  • Diabetes Mellitus / genetics*
  • Diabetes, Gestational / blood
  • Female
  • Homeodomain Proteins / genetics*
  • Homozygote
  • Humans
  • Hypoglycemic Agents / therapeutic use
  • Infant, Newborn
  • Insulin, Isophane / therapeutic use
  • Male
  • Mothers
  • Mutation*
  • Pancreas / abnormalities*
  • Pregnancy
  • Trans-Activators / genetics*
  • Young Adult


  • Blood Glucose
  • Homeodomain Proteins
  • Hypoglycemic Agents
  • Trans-Activators
  • pancreatic and duodenal homeobox 1 protein
  • Insulin, Isophane