Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

Endocrinol Metab Clin North Am. 2016 Jun;45(2):295-309. doi: 10.1016/j.ecl.2016.01.003. Epub 2016 Apr 13.

Abstract

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.

Keywords: ABCD1; Addison disease; Adrenal insufficiency; Adrenomyeloneuropathy; Androgen deficiency; Testicular dysfunction; Very-long-chain fatty acids; X-linked adrenoleukodystrophy.

Publication types

  • Review

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics
  • Adrenal Insufficiency / etiology*
  • Adrenal Insufficiency / therapy
  • Adrenoleukodystrophy / complications*
  • Endocrine System / physiopathology*
  • Humans
  • Male
  • Mutation
  • Oxidative Stress
  • Testis / physiopathology

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1