X-linked adrenoleukodystrophy (ALD), char’ acterized by the presence of adrenal insufficiency and demyelination, has recently been recognized to be an important cause of primary adrenal insufficiency in males. This disease has a broad clinical expression with four major presentations. The most common phenotypic group is the severe cerebral form of ALD, which is seen most frequently in childhood. In this form, demyelination advances rapidly over several years and the disease is uniformly fatal. A second common phenotype is the adrenomyeloneuropathy form, which usually has its onset in adulthood and exhibits a slow neurological progression dominated by spastic paraparesis. The third phenotype is isolated Addison disease with no neurological involvement. Asymptomatic and presymptomatic patients comprise the fourth phenotypic group. ALD males can develop adrenal disease long before neurological symptoms arise. The diagnosis of ALD is readily made by measuring plasma levels of saturated very long chain fatty acids, which are elevated in affected patients due to an enzymatic defect in their oxidation. All males with isolated adrenal insufficiency should be tested for ALD because of the potential for therapy and the genetic implications for the family.
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism