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Endocrine

, Volume 40, Issue 1, pp 10–13 | Cite as

Endocrine and metabolic aspects of the Wolfram syndrome

  • Georgios Boutzios
  • Sarantis Livadas
  • Evangelos Marinakis
  • Nicole Opie
  • Frangiskos Economou
  • Evanthia Diamanti-KandarakisEmail author
Mini Review

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.

Keywords

Diabetes mellitus Diabetes insipidus Amenorrhea 

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Georgios Boutzios
    • 1
  • Sarantis Livadas
    • 1
  • Evangelos Marinakis
    • 1
  • Nicole Opie
    • 1
  • Frangiskos Economou
    • 1
  • Evanthia Diamanti-Kandarakis
    • 1
    Email author
  1. 1.Third Department of MedicineMedical School University of Athens, Sotiria Hospital AthensAthensGreece

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