Abstract
Adrenoleukodystrophy (ALD) is a peroxisomal disorder affecting the nervous system, adrenal cortical function, and testicular function. Newborn screening for ALD has the potential to identify patients at high risk for life-threatening adrenal crisis and cerebral ALD. The current understanding of the natural history of endocrine dysfunction is limited. Surveillance guidelines for males with ALD were developed to address the unpredictable nature of evolving adrenal insufficiency. Early recognition and management of adrenal insufficiency can prevent adrenal crisis. While testicular dysfunction in ALD is described, the natural history and complications of low testosterone, as well as the management, are not well described.
Highlights
IntroductionNew York State initiated newborn screening for ALD on 30 December 2013
Newborn screening has the benefit of detecting males prior to the onset of symptoms and allowing for therapeutic interventions to prevent the most severe consequences of ALD
The focus of this review is to summarize the screening, presentation, and treatment of the endocrine complications of ALD
Summary
New York State initiated newborn screening for ALD on 30 December 2013. Newborn screening has the benefit of detecting males prior to the onset of symptoms and allowing for therapeutic interventions to prevent the most severe consequences of ALD. Much of the focus of ALD research and reports has been on the neurologic complications. Cerebral ALD presents in about a third of boys during childhood with a rapid loss of cognitive and motor development, leading to complete, devastating disability within two years of initial symptoms. The endocrine complications of ALD can lead to significant morbidity, and in the case of adrenal insufficiency, mortality [1]. The focus of this review is to summarize the screening, presentation, and treatment of the endocrine complications of ALD.
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