title: Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.
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.
authors.affiliation: Department of Pediatrics and Communicable Diseases, Division of Pediatric Endocrinology, University of Michigan Health Center, Ann Arbor, MI 48109, USA.
authors.forename: Inas H
authors.initials: IH
authors.lastname: Thomas
authors.forename: Natinder K
authors.initials: NK
authors.lastname: Saini
authors.forename: Amita
authors.initials: A
authors.lastname: Adhikari
authors.forename: Joyce M
authors.initials: JM
authors.lastname: Lee
authors.forename: Josephine Z
authors.initials: JZ
authors.lastname: Kasa-Vubu
authors.forename: Delia M
authors.initials: DM
authors.lastname: Vazquez
authors.forename: Ram K
authors.initials: RK
authors.lastname: Menon
authors.forename: Ming
authors.initials: M
authors.lastname: Chen
authors.forename: Stefan S
authors.initials: SS
authors.lastname: Fajans
mesh_terms: D001724:Birth Weight; D001786:Blood Glucose / Q000032:analysis; D001827:Body Height; D001835:Body Weight; D002585:Cesarean Section; D002896:Chromosomes, Human, Pair 6; D003920:Diabetes Mellitus / Q000097:blood / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D016640:Diabetes, Gestational / Q000097:blood; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007336:Insulin, Isophane / Q000627:therapeutic use; D008297:Male; D009035:Mothers; D009154:Mutation; D010179:Pancreas / Q000002:abnormalities*; D011247:Pregnancy; D015534:Trans-Activators / Q000235:genetics*; D055815:Young Adult
chemical_list: D001786:Blood Glucose; D018398:Homeodomain Proteins; D007004:Hypoglycemic Agents; D015534:Trans-Activators; C084010:pancreatic and duodenal homeobox 1 protein; D007336:Insulin, Isophane