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  • Title: The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease.
    Author: Ronghe MD, Barton J, Jardine PE, Crowne EC, Webster MH, Armitage M, Allen JT, Steward CG.
    Journal: Arch Dis Child; 2002 Mar; 86(3):185-9. PubMed ID: 11861237.
    Abstract:
    X linked adrenoleucodystrophy (X-ALD) is considered to be a rare cause of Addison's disease, although several small series suggest a high incidence in young Addisonian males. A survey in the south west of England identified 12 male patients diagnosed with Addison's disease in the period 1987-99. In 10 of these (83%) X-ALD was the underlying cause; the other two were of autoimmune aetiology. Five boys had developed Addison's disease subsequent to the diagnosis of X-ALD. Of the remaining five, in three boys the diagnosis of X-ALD was considerably delayed (by six months to two years from that of Addison's disease) and in two it was only made as a result of this survey. We also identified a patient who presented with Addison's disease at the age of 5 years but was only diagnosed as having X-ALD at the age of 34 years; in the interim his diagnosis of adrenomyeloneuropathy had been missed. Our experience highlights the absolute necessity of measuring very long chain fatty acids in all males with idiopathic Addison's disease.
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