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Endocrine and metabolic aspects of the Wolfram syndrome

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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.

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Authors and Affiliations

  1. Third Department of Medicine, Medical School University of Athens, Sotiria Hospital Athens, Athens, Greece

    Georgios Boutzios, Sarantis Livadas, Evangelos Marinakis, Nicole Opie, Frangiskos Economou & Evanthia Diamanti-Kandarakis

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  1. Georgios Boutzios
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  2. Sarantis Livadas
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  3. Evangelos Marinakis
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  4. Nicole Opie
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  6. Evanthia Diamanti-Kandarakis
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Correspondence to Evanthia Diamanti-Kandarakis.

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Boutzios, G., Livadas, S., Marinakis, E. et al. Endocrine and metabolic aspects of the Wolfram syndrome. Endocrine 40, 10–13 (2011). https://doi.org/10.1007/s12020-011-9505-y

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