title: Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome.
abstract: Pancreatic exocrine insufficiency in Johanson-Blizzard syndrome (JBS) is well described but only two previous patient reports document pancreatic endocrine insufficiency manifested as diabetes mellitus, and each patient required only a modest dose of insulin to control hyperglycemia. We report a patient with JBS and new-onset diabetes mellitus with profound insulin resistance, with no clinical or laboratory evidence of pancreatic exocrine insufficiency.
authors.affiliation: Department of Pediatrics, Lucile Packard Children's Hospital at Stanford University, California, USA. md.stewi@lpch.stanford.edu
authors.forename: W J
authors.initials: WJ
authors.lastname: Steinbach
authors.forename: R L
authors.initials: RL
authors.lastname: Hintz
mesh_terms: D000015:Abnormalities, Multiple / Q000503:physiopathology*; D001006:Anus, Imperforate / Q000150:complications; D006332:Cardiomegaly / Q000150:complications* / Q000151:congenital; D002648:Child; D003638:Deafness / Q000150:complications*; D003920:Diabetes Mellitus / Q000209:etiology*; D004392:Dwarfism / Q000150:complications*; D005260:Female; D006801:Humans; D007333:Insulin Resistance; D008831:Microcephaly / Q000150:complications; D009666:Nose / Q000002:abnormalities; D013577:Syndrome