The importance of testing for adrenoleucodystrophy in males with idiopathic Addison's disease.
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.
Ronghe
M D
MD
Department of Haematology/Oncology, Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK.
Barton
J
J
Jardine
P E
PE
Crowne
E C
EC
Webster
M H
MH
Armitage
M
M
Allen
J T
JT
Steward
C G
CG
D000224:Addison Disease / Q000209:etiology*; D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003366:Cosyntropin; D006801:Humans; D008297:Male
D003366:Cosyntropin