Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease.
Clin Endocrinol (Oxf)
; 79(3): 316-20, 2013 Sep.
Article
em En
| MEDLINE
| ID: mdl-23346902
ABSTRACT
OBJECTIVES:
X-linked adrenoleukodystrophy is an important cause of Addison's disease in boys, but less is known about its contribution to Addison's disease in adult men. After surveying all known cases of X-linked adrenoleukodystrophy in Norway in a separate study, we aimed to look for any missed cases among the population of adult men with nonautoimmune Addison's disease. STUDYDESIGN:
Among 153 adult men identified in a National Registry for Addison's Disease (75% of identified male cases of Addison's disease in Norway), those with negative indices for 21-hydroxylase autoantibodies were selected. Additionally, cases with low autoantibody indices (48-200) were selected. Sera from subjects included were analysed for levels of very long-chain fatty acids, which are diagnostic for X-linked adrenoleukodystrophy in men.RESULTS:
Eighteen subjects had negative indices and 17 had low indices for 21-hydroxylase autoantibodies. None of those with low indices and only one of those with negative indices were found to have X-linked adrenoleukodystrophy; this subject had already been diagnosed because of the neurological symptoms. Cases of Addison's disease proved to be caused by X-linked adrenoleukodystrophy constitute 1·5% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%.CONCLUSIONS:
We found X-linked adrenoleukodystrophy to be an uncommon cause of Addison's disease in adult men. However, this aetiological diagnosis has far-reaching consequences both for the patient and for his extended family. We therefore recommend that all adult men with nonautoimmune Addison's disease be analysed for levels of very long-chain fatty acids.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Addison
/
Adrenoleucodistrofia
/
Cromossomos Humanos X
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Limite:
Adolescent
/
Adult
/
Aged
/
Aged80
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Clin Endocrinol (Oxf)
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Noruega