Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

Elizabeth Burtman; Molly O. Regelmann

doi:10.1016/j.ecl.2016.01.003

Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

Elizabeth Burtman, Molly O. Regelmann

Research output: Contribution to journal › Review article › peer-review

34 Scopus citations

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 language	English (US)
Pages (from-to)	295-309
Number of pages	15
Journal	Endocrinology and Metabolism Clinics of North America
Volume	45
Issue number	2
DOIs	https://doi.org/10.1016/j.ecl.2016.01.003
State	Published - Jun 1 2016
Externally published	Yes

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ecl.2016.01.003

Cite this

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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.",

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AU - Regelmann, Molly O.

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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.

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KW - Adrenal insufficiency

KW - Adrenomyeloneuropathy

KW - Androgen deficiency

KW - Testicular dysfunction

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Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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