Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

Elizabeth Burtman, Molly O. Regelmann

Research output: Contribution to journalReview article

12 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)295-309
Number of pages15
JournalEndocrinology and Metabolism Clinics of North America
Volume45
Issue number2
DOIs
StatePublished - Jun 1 2016
Externally publishedYes

Fingerprint

Adrenoleukodystrophy
Adrenal Insufficiency
Fatty Acids
Mutation
Nervous System Diseases
Nervous System
Genes
Oxidative Stress

Keywords

  • 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

Cite this

Endocrine Dysfunction in X-Linked Adrenoleukodystrophy. / Burtman, Elizabeth; Regelmann, Molly O.

In: Endocrinology and Metabolism Clinics of North America, Vol. 45, No. 2, 01.06.2016, p. 295-309.

Research output: Contribution to journalReview article

@article{b278748ae3034d11b30f3db16771995e,
title = "Endocrine Dysfunction in X-Linked Adrenoleukodystrophy",
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",
author = "Elizabeth Burtman and Regelmann, {Molly O.}",
year = "2016",
month = "6",
day = "1",
doi = "10.1016/j.ecl.2016.01.003",
language = "English (US)",
volume = "45",
pages = "295--309",
journal = "Endocrinology and Metabolism Clinics of North America",
issn = "0889-8529",
publisher = "W.B. Saunders Ltd",
number = "2",

}

TY - JOUR

T1 - Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

AU - Burtman, Elizabeth

AU - Regelmann, Molly O.

PY - 2016/6/1

Y1 - 2016/6/1

N2 - 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.

AB - 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.

KW - ABCD1

KW - Addison disease

KW - Adrenal insufficiency

KW - Adrenomyeloneuropathy

KW - Androgen deficiency

KW - Testicular dysfunction

KW - Very-long-chain fatty acids

KW - X-linked adrenoleukodystrophy

UR - http://www.scopus.com/inward/record.url?scp=84964319332&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84964319332&partnerID=8YFLogxK

U2 - 10.1016/j.ecl.2016.01.003

DO - 10.1016/j.ecl.2016.01.003

M3 - Review article

C2 - 27241966

AN - SCOPUS:84964319332

VL - 45

SP - 295

EP - 309

JO - Endocrinology and Metabolism Clinics of North America

JF - Endocrinology and Metabolism Clinics of North America

SN - 0889-8529

IS - 2

ER -