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Screening for X-linked adrenoleukodystrophy among adult men with Addison's disease

Artikel i vetenskaplig tidskrift
Författare M. A. Horn
M. M. Erichsen
A. S. B. Wolff
Jan-Eric Månsson
E. S. Husebye
C. M. E. Tallaksen
Ola H. Skjeldal
Publicerad i Clinical Endocrinology
Volym 79
Nummer/häfte 3
Sidor 316-320
ISSN 0300-0664
Publiceringsår 2013
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Sidor 316-320
Språk en
Länkar dx.doi.org/10.1111/cen.12159
Ämnesord primary adrenal insufficiency, adrenomyeloneuropathy, autoantibodies, dysfunction, experience, childhood
Ämneskategorier Neurologi, Endokrinologi

Sammanfattning

ObjectivesX-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. Study designAmong 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. ResultsEighteen 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 15% of all adult male cases in Norway; the proportion among nonautoimmune cases was 15%. ConclusionsWe 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.

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