Endocrine and metabolic aspects of the Wolfram syndrome
- 2 July 2011
- journal article
- review article
- Published by Springer Science and Business Media LLC in Endocrine
- Vol. 40 (1), 10-13
- https://doi.org/10.1007/s12020-011-9505-y
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
This publication has 40 references indexed in Scilit:
- Male mice with deleted Wolframin (Wfs1) gene have reduced fertilityReproductive Biology and Endocrinology, 2009
- Current Developments in Wolfram SyndromeJournal of Pediatric Endocrinology and Metabolism, 2009
- Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 geneJournal of Medical Genetics, 2005
- Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndromeAustralasian Radiology, 2005
- Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behaviorAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2003
- Clinical and Molecular Genetic Analysis of 19 Wolfram Syndrome Kindreds Demonstrating a Wide Spectrum of Mutations in WFS1American Journal of Human Genetics, 1999
- Morbidity and Mortality in the Wolfram SyndromeDiabetes Care, 1995
- JUVENILE DIABETES MELLITUS, OPTIC ATROPHY, HEARING LOSS, DIABETES INSIPIDUS, ATONIA OF THE URINARY TRACT AND BLADDER, AND OTHER ABNORMALITIES (WOLFRAM SYNDROME)Acta Paediatrica, 1977
- Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus—a syndromeThe Journal of Pediatrics, 1976
- Diabetes mellitus and optic atrophy with associated findings of diabetes insipidus and neurosensory hearing loss in two siblingsArchives of Internal Medicine, 1974