Endocrine and metabolic aspects of the Wolfram syndrome

被引：23

作者：

Boutzios, Georgios ^{[1
]}

Livadas, Sarantis ^{[1
]}

Marinakis, Evangelos ^{[1
]}

Opie, Nicole ^{[1
]}

Economou, Frangiskos ^{[1
]}

Diamanti-Kandarakis, Evanthia ^{[1
]}

机构：

[1] Univ Athens, Sch Med, Sotiria Hosp Athens, Dept Med 3, GR-11527 Athens, Greece

来源：

ENDOCRINE | 2011年 / 40卷 / 01期

关键词：

Diabetes mellitus; Diabetes insipidus; Amenorrhea; WFS1; GENE; OPTIC ATROPHY; DIABETES-INSIPIDUS; PSYCHIATRIC-ILLNESS; AFFECTIVE-DISORDER; BIPOLAR DISORDER; DEAFNESS DIDMOAD; NO ASSOCIATION; MUTATIONS; MELLITUS;

D O I：

10.1007/s12020-011-9505-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：10 / 13

页数：4

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