title: A case showing an association between type 1 diabetes mellitus and Kabuki syndrome.
abstract: The case of a 31-year-old female suffering from type 1 diabetes mellitus (DM) and Kabuki syndrome is presented. The patient was diagnosed as having impaired glucose tolerance (IGT) at age 18; secondary amenorrhea occurred at age 20, following acute body weight loss. Extensive examination revealed the patient to have a slowly progressive form of type 1 DM and, based on the physical findings, including her facial features, she was diagnosed as also having congenital Kabuki syndrome. Since then, this patient has experienced several episodes of diabetic ketoacidosis, all of which were brought about by prolonged bronchial infection. Although it is perhaps reasonable at present to consider this case to represent a chance association, further clinical investigations will be carried out to clarify whether or not Kabuki syndrome and type 1 DM have any common pathogenic features.
authors.affiliation: Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Japan.
authors.forename: Midori
authors.initials: M
authors.lastname: Fujishiro
authors.forename: Takehide
authors.initials: T
authors.lastname: Ogihara
authors.forename: Katsunori
authors.initials: K
authors.lastname: Tsukuda
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Shojima
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kimura
authors.forename: Yoshitomo
authors.initials: Y
authors.lastname: Oka
authors.forename: Tomoichiro
authors.initials: T
authors.lastname: Asano
mesh_terms: D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D003922:Diabetes Mellitus, Type 1 / Q000150:complications* / Q000175:diagnosis / Q000276:immunology; D018450:Disease Progression; D019066:Facies; D005260:Female; D018149:Glucose Intolerance / Q000175:diagnosis; D006130:Growth Disorders / Q000150:complications*; D006330:Heart Defects, Congenital / Q000150:complications; D006728:Hormones / Q000097:blood; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D013577:Syndrome
chemical_list: D006728:Hormones