Adrenal defect in adrenomyelodystrophy.
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.
D000305:Adrenal Cortex Hormones / Q000378:metabolism; D000309:Adrenal Insufficiency / Q000150:complications* / Q000503:physiopathology; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000328:Adult; D001927:Brain Diseases / Q000150:complications*; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000150:complications*; D013118:Spinal Cord Diseases / Q000150:complications*
D000305:Adrenal Cortex Hormones; D000324:Adrenocorticotropic Hormone