Document Detail


Endocrine and metabolic aspects of the Wolfram syndrome.
MedLine Citation:
PMID:  21725703     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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:
Georgios Boutzios; Sarantis Livadas; Evangelos Marinakis; Nicole Opie; Frangiskos Economou; Evanthia Diamanti-Kandarakis
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-7-2
Journal Detail:
Title:  Endocrine     Volume:  -     ISSN:  1559-0100     ISO Abbreviation:  -     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-7-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9434444     Medline TA:  Endocrine     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Third Department of Medicine, Medical School University of Athens, Sotiria Hospital Athens, Athens, Greece.
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