title: Endocrine and metabolic aspects of the Wolfram syndrome.
abstract: Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a neurodegenerative disease with autosomal recessive inheritance with incomplete penetrance. DIDMOAD is a very rare disease with an estimated prevalence of 1 in 770,000 and it is believed to occur in 1 of 150 patients with juvenile-onset insulin-dependent diabetes mellitus. Additionally, WS may also present with different endocrine and metabolic abnormalities such as anterior and posterior pituitary gland dysfunction. This mini-review summarizes the variable presentation of WS and the need of screening for other metabolic and hormonal abnormalities, coexisting in this rare syndrome.
authors: Third Department of Medicine, Medical School University of Athens, Sotiria Hospital Athens, Athens, Greece.
authors: Georgios
authors: G
authors: Boutzios
authors: Sarantis
authors: S
authors: Livadas
authors: Evangelos
authors: E
authors: Marinakis
authors: Nicole
authors: N
authors: Opie
authors: Frangiskos
authors: F
authors: Economou
authors: Evanthia
authors: E
authors: Diamanti-Kandarakis
mesh_terms: D003638:Deafness / Q000503:physiopathology; D003919:Diabetes Insipidus / Q000378:metabolism / Q000503:physiopathology; D003920:Diabetes Mellitus / Q000378:metabolism / Q000503:physiopathology; D004703:Endocrine System / Q000503:physiopathology*; D006728:Hormones / Q000378:metabolism; D006801:Humans; D009896:Optic Atrophy / Q000503:physiopathology; D014929:Wolfram Syndrome / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology*
chemical_list: D006728:Hormones