Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

Elizabeth Burtman, Molly O. Regelmann

Research output: Contribution to journalReview articlepeer-review

31 Scopus citations


X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and leads to an elevation of very-long-chain fatty acids (VLCFA). The accumulation of the VLCFA and the associated oxidative stress can present with a spectrum of significant neurologic disease, adrenal insufficiency, and testicular dysfunction in males with ABCD1 gene mutations. Much of the published literature for X-ALD has focused on the associated devastating progressive neurologic conditions. The purpose of this review is to summarize the concerns for endocrine dysfunction associated with X-ALD and provide guidance for monitoring and management of adrenal insufficiency.

Original languageEnglish (US)
Pages (from-to)295-309
Number of pages15
JournalEndocrinology and Metabolism Clinics of North America
Issue number2
StatePublished - Jun 1 2016
Externally publishedYes


  • ABCD1
  • Addison disease
  • Adrenal insufficiency
  • Adrenomyeloneuropathy
  • Androgen deficiency
  • Testicular dysfunction
  • Very-long-chain fatty acids
  • X-linked adrenoleukodystrophy

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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