Horm Metab Res 1996; 28(7): 319-322
DOI: 10.1055/s-2007-979803
Originals Clinical

© Georg Thieme Verlag Stuttgart · New York

Absence of Circulating Adrenal Autoantibodies in Adult-Onset X-Linked Adrenoleukodystrophy

S. Laureti1 , A. Falorni1 , 2 , Marina Volpato3 , G. Casucci1 , Maria Luisa Picchio1 , Gabriella Angeletti1 , H. Luthman2 , P. Brunetti1 , C. Betterle3 , F. Santeusanio1
  • 1Dipartimento di Medicina Interna e Scienze Endocrine e Metaboliche, Università di Perugia, Perugia, Italy
  • 2Department of Molecular Medicine, Karolinska Institute, Stockholm, Sweden
  • 3Istituto di Semeiotica Medica, Università di Padova, Padova, Italy
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Publication History



Publication Date:
23 April 2007 (online)


X-linked adrenoleukodystrophy (ALD) is a frequent cause of adrenal insufficiency in young-adult patients with Addison's disease. As the contribution of an autoimmune process in the destruction of steroid cells in ALD is unclear, the aim of the present study was to evaluate the occurrence of adrenal-, thyroid- and islet-specific and non organ-specific autoantibodies in adult ALD patients. In all 5 patients, Addison's disease was the first manifestation of ALD. None of the ALD patients were positive for adrenal cortex autoantibodies in an indirect immunofluorescence assay, or for 21-hydroxylase autoantibodies in a radiobinding assay with recombinant human antigen. Similarly, we found neither non-organ specific autoantibodies (such as anti-nuclear, anti-ribosoma I, anti-mitochondria, anti-smooth-muscle, anti-liver/kidney microsomal or anti-reticulin autoantibodies), nor islet-cell antibodies or glutamic acid decarboxylase (GAD65 or GAD67) autoantibodies, nor thyroglobulin autoantibodies in the sera of the 5 ALD patients. Two out of five patients were positive for thyroid microsomal autoantibodies. One of the two latter thyroid antibody-positive patients had clinical symptoms of hypothyroidism, and the other presented high levels of circulating TSH but no clinical signs or symptoms of hypothyroidism. Our study demonstrates that adult ALD is not immediately associated with the presence of adrenal autoantibodies and suggests that adrenal insufficiency is not mediated by an autoimmune process in adult ALD patients.