Erschienen in:
01.08.2011 | Mini Review
Endocrine and metabolic aspects of the Wolfram syndrome
verfasst von:
Georgios Boutzios, Sarantis Livadas, Evangelos Marinakis, Nicole Opie, Frangiskos Economou, Evanthia Diamanti-Kandarakis
Erschienen in:
Endocrine
|
Ausgabe 1/2011
Einloggen, um Zugang zu erhalten
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.