title: Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis.
abstract: Many patients with monogenic diabetes are missed or misclassified. Herein, we report a 28-year-old Indian female who developed diabetes at the age of 3 months. An audit of our type 1 diabetes database led to her genetic testing. A KCNJ11 mutation was identified and she was successfully switched to sulphonylurea.
authors.affiliation: Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand. Electronic address: kamijoa@hotmail.com.
authors.forename: Yotsapon
authors.initials: Y
authors.lastname: Thewjitcharoen
authors.affiliation: Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand.
authors.forename: Ekgaluck
authors.initials: E
authors.lastname: Wanothayaroj
authors.affiliation: Diabetes and Thyroid Center, Theptarin Hospital, Bangkok, Thailand.
authors.forename: Thep
authors.initials: T
authors.lastname: Himathongkam
authors.affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.affiliation: Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter, Exeter, UK.
authors.forename: Andrew T
authors.initials: AT
authors.lastname: Hattersley
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000175:diagnosis* / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis*; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D004247:DNA
keywords: KCNJ11; Misdiagnosis; Permanent neonatal diabetes