Primary Adrenal Insufficiency in Children: Adrenoleukodystrophy as a Rare Etiology in Girls
Year: 2025
Type: article
Study design: Case Report
Abstract: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues. X-linked adrenoleukodystrophy (X-ALD) is a rare metabolic disorder caused by a mutation in the ABCD1 gene, leading to peroxisomal enzyme dysfunction and the accumulation of very long-chain fatty acids (VLCFAs) in various tissues. This condition presents with considerable clinical variability, ranging from progressive neurological impairment to isolated adrenal insufficiency. In pediatric patients, adrenal insufficiency is often the first manifestation, although it is less common in females. We present the case of a patient with unexplained adrenal insufficiency, which raised suspicion of X-ALD. Initial endocrinological investigations revealed primary adrenal insufficiency, characterized by elevated ACTH levels and significantly low cortisol. Due to the absence of a clear cause, further metabolic and genetic investigations were initiated to confirm the diagnosis. This case emphasizes the importance of considering X-ALD, even in females, when confronted with unexplained adrenal insufficiency, to ensure proper management and preventative neurological follow-up.
Institution: Centre Hospitalier Universitaire Hassan II
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4409772135