Incidental diagnosis of primary adrenal insufficiency precipitated by positive ABCD1 gene mutation detected on cascade screening

This case presentation outlines the occurrence of primary adrenal insufficiency secondary to ATP binding cassette subfamily D member 1 (ABCD1) mutation in a man in his 40s following a genetic screening test performed after a diagnosis of X-linked adrenoleukodystrophy (X-ALD) in his nephew who is in his middle childhood years. In contrast to his nephew’s presentation with rapid onset and progression of cerebral adrenoleukodystrophy leading to severe neurological manifestations, his symptoms primarily included chronic fatigue and muscle stiffness without any features suggestive of mineralocorticoid deficiency noted for at least 3 years preceding the timeline of his diagnosis. Genetic testing revealed X-ALD (hemizygous for ABCD1:c901-5c>A). A short synacthen test confirmed primary adrenocortical insufficiency. Hydrocortisone treatment was initiated, leading to improvement in symptoms. His presentation highlights the well-recognised but less commonly perceived implications of ABCD1 mutation and its relevance in routine clinical practice as a part of diagnostic tests for primary adrenal insufficiency.