title: Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome.
abstract: A new syndrome in two siblings with primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus is presented. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon and insulin all working through cell membrane receptors were elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients.
authors.affiliation: Paediatric Department, Aker Hospital, Oslo, Norway.
authors.forename: H J
authors.initials: HJ
authors.lastname: Bangstad
authors.forename: H
authors.initials: H
authors.lastname: Beck-Nielsen
authors.forename: O
authors.initials: O
authors.lastname: Hother-Nielsen
authors.forename: R
authors.initials: R
authors.lastname: Nystad
authors.forename: O
authors.initials: O
authors.lastname: Trygstad
authors.forename: O
authors.initials: O
authors.lastname: Pedersen
authors.forename: O
authors.initials: O
authors.lastname: Aagenaes
mesh_terms: D000293:Adolescent; D000328:Adult; D001259:Ataxia / Q000097:blood / Q000235:genetics*; D001786:Blood Glucose / Q000032:analysis; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000235:genetics*; D004392:Dwarfism / Q000097:blood / Q000235:genetics*; D005260:Female; D006042:Goiter / Q000097:blood / Q000235:genetics*; D006801:Humans; D007328:Insulin / Q000097:blood; D008297:Male; D010053:Ovary / Q000503:physiopathology*; D013577:Syndrome; D013737:Testis / Q000503:physiopathology*
chemical_list: D001786:Blood Glucose; D007328:Insulin