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- Title
Endocrine and metabolic aspects of the Wolfram syndrome.
- Authors
Boutzios, Georgios; Livadas, Sarantis; Marinakis, Evangelos; Opie, Nicole; Economou, Frangiskos; Diamanti-Kandarakis, Evanthia
- 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.
- Subjects
DIABETES; NEURODEGENERATION; RARE diseases; DISEASE prevalence; MEDICAL screening
- Publication
Endocrine (1355008X), 2011, Vol 40, Issue 1, p10
- ISSN
1355-008X
- Publication type
Article
- DOI
10.1007/s12020-011-9505-y