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.
authors.affiliation: 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.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Burtman
authors.affiliation: 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.
authors.forename: Molly O
authors.initials: MO
authors.lastname: Regelmann
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1 / Q000235:genetics; D000309:Adrenal Insufficiency / Q000209:etiology* / Q000628:therapy; D000326:Adrenoleukodystrophy / Q000150:complications*; D004703:Endocrine System / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009154:Mutation; D018384:Oxidative Stress; D013737:Testis / Q000503:physiopathology
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1
keywords: ABCD1; Addison disease; Adrenal insufficiency; Adrenomyeloneuropathy; Androgen deficiency; Testicular dysfunction; Very-long-chain fatty acids; X-linked adrenoleukodystrophy