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.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Birth Weight
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Blood Glucose / analysis
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Body Height
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Body Weight
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Cesarean Section
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Chromosomes, Human, Pair 6*
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Diabetes Mellitus / blood
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Diabetes Mellitus / drug therapy
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Diabetes Mellitus / etiology
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Diabetes Mellitus / genetics*
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Diabetes, Gestational / blood
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Female
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Homeodomain Proteins / genetics*
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Homozygote
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Humans
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Hypoglycemic Agents / therapeutic use
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Infant, Newborn
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Insulin, Isophane / therapeutic use
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Male
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Mothers
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Mutation*
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Pancreas / abnormalities*
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Pregnancy
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Trans-Activators / genetics*
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Young Adult
Substances
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Blood Glucose
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Homeodomain Proteins
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Hypoglycemic Agents
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Trans-Activators
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pancreatic and duodenal homeobox 1 protein
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Insulin, Isophane