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

Endocrine Dysfunction in X-Linked Adrenoleukodystrophy.

Author information

1
Division of Pediatric Endocrinology and Diabetes, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA.
2
Division of Pediatric Endocrinology and Diabetes, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA. Electronic address: molly.regelmann@mountsinai.org.

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

PMID:
27241966
DOI:
10.1016/j.ecl.2016.01.003
[Indexed for MEDLINE]

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