Adrenal Defect in Adrenomyelodystrophy

Abstract
Adrenomyelodystrophy (AMD), a variant of adrenoleukodystrophy, is associated with both neurologic and adrenal dysfunction. Data from an endocrinologic evaluation of a 41-year-old pigmented white man with AMD showed elevation in basal plasma ACTH, 11-deoxycortisol, 17-alpha OH-progesterone and progesterone concentrations, and low normal plasma cortisol levels. Free urinary cortisol and 17-ketosteroid secretion values were within normal limits. These data suggest that the principal adrenal enzymatic defect in this patient was a partial block of 11-hydroxylase and that the elevation of precursors was ACTH-dependent. However, this patient may have other enzymatic defects.

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