Endocrine Dysfunction in X-Linked Adrenoleukodystrophy

• Autores: Elizabeth Burtman, Molly O. Regelmann
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 45, Nº. 2, 2016 (Ejemplar dedicado a: Pediatric Endocrinology), págs. 295-309
• Idioma: inglés
• Enlaces
  • Texto completo
• Resumen

  • 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.