title: Continuous subcutaneous IGF-1 therapy via insulin pump in a patient with Donohue syndrome.
abstract: Donohue syndrome (DS) is a severe form of congenital insulin resistance due to mutation(s) in the insulin receptor (INSR) gene. Given the similarities between insulin and insulin-like growth factor 1 (IGF-1) receptors, recombinant human IGF-1 (rhIGF-1) has been used to treat severe insulin resistance due to INSR mutation(s). Traditional subcutaneous therapy may be limited by the shortened IGF-1 half-life in these patients. We report the case of a female with molecularly confirmed DS treated with continuous rhIGF-1 therapy via an insulin pump. With treatment, the patient's hemoglobin A1c decreased from 9.8% to 8.8%, and her weight increased by 0.8 kg. Development of an ovarian tumor complicated her course, but it was unclear whether this was related to rhIGF-1 therapy. Limited treatment options exist for patients with DS. The use of continuous rhIGF-1 via an insulin pump may be a viable option, although further experience is needed to establish safety and efficacy.
authors.forename: David R
authors.initials: DR
authors.lastname: Weber
authors.forename: Diana E
authors.initials: DE
authors.lastname: Stanescu
authors.forename: Robert
authors.initials: R
authors.lastname: Semple
authors.forename: Cheryl
authors.initials: C
authors.lastname: Holland
authors.forename: Sheela N
authors.initials: SN
authors.lastname: Magge
mesh_terms: D015703:Antigens, CD / Q000235:genetics; D056731:Donohue Syndrome / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007260:Infusion Pumps; D007279:Injections, Subcutaneous; D007334:Insulin-Like Growth Factor I / Q000008:administration & dosage* / Q000494:pharmacology; D009154:Mutation / Q000235:genetics; D011379:Prognosis; D011972:Receptor, Insulin / Q000235:genetics; D011994:Recombinant Proteins / Q000008:administration & dosage* / Q000494:pharmacology
chemical_list: D015703:Antigens, CD; D011994:Recombinant Proteins; D007334:Insulin-Like Growth Factor I; C435941:INSR protein, human; D011972:Receptor, Insulin