%0 Journal Article %T Previously unreported abnormalities in Wolfram Syndrome Type 2 %+ Barbara Davis Center for Childhood Diabetes (BDC) %+ Institut Armand Frappier (INRS-IAF) %A Akturk, Halis Kaan %A Yasa, Seda %< avec comité de lecture %@ 2081-237X %J Pediatric Endocrinology Diabetes and Metabolism %V 23 %N 2 %P 107 - 110 %8 2017-10-11 %D 2017 %R 10.18544/PEDM-23.02.0081 %M 29073294 %Z Life Sciences [q-bio]Journal articles %X Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness. We report possible additional clinical and laboratory findings that have not been pre-viously reported, such as asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency and hepatomegaly. Even though not a requirement for the diagnosis of WFS2 currently, our case series confirm hypogonadotropic hypogonadism to be also a feature of this syndrome, as reported before. %G English %L pasteur-01854635 %U https://riip.hal.science/pasteur-01854635 %~ RIIP %~ INRS-IAF