Akturk H, Yasa S. Previously unreported abnormalities in Wolfram Syndrome Type 2. Pediatric Endocrinology Diabetes and Metabolism. 2017;23(2).
APA
Akturk, H., & Yasa, S. (2017). Previously unreported abnormalities in Wolfram Syndrome Type 2. Pediatric Endocrinology Diabetes and Metabolism, 23(2).
Chicago
Akturk, Halis Kaan, and Seda Yasa. 2017. "Previously unreported abnormalities in Wolfram Syndrome Type 2". Pediatric Endocrinology Diabetes and Metabolism 23 (2).
Harvard
Akturk, H., and Yasa, S. (2017). Previously unreported abnormalities in Wolfram Syndrome Type 2. Pediatric Endocrinology Diabetes and Metabolism, 23(2).
MLA
Akturk, Halis Kaan et al. "Previously unreported abnormalities in Wolfram Syndrome Type 2." Pediatric Endocrinology Diabetes and Metabolism, vol. 23, no. 2, 2017.
Vancouver
Akturk H, Yasa S. Previously unreported abnormalities in Wolfram Syndrome Type 2. Pediatric Endocrinology Diabetes and Metabolism. 2017;23(2).
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.