X-linked adrenoleukodystrophy (X-ALD) is a debilitating disease caused by mutations in the ABCD1 gene. Approximately 30% of affected boys develop the progressive ...

ACTH insensitivity is a cardinal feature of ALD, but the mechanism is unknown. We studied a 10 year old hyperpigmented boy with glucocorticoid insufficiency of 8 years duration and a history of ...