Adrenoleukodystrophy: Guidance for adrenal surveillance in males identified by newborn screen

Molly O. Regelmann, Manmohan K. Kamboj, Jon M. Nakamoto, Bradley S Miller, Sejal Shah, Kyriakie M Sarafoglou, Rose Marino

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


Context: Adrenoleukodystrophy (ALD) is a peroxisomal disorder associated with neurologic de-compensation and adrenal insufficiency. Newborn screening for ALD has recently been implemented in five states with plans to expand to all 50 states in the United States. Adrenal insufficiency ultimately develops in most males with ALD, but the earliest age of onset is not well established. Objective: These clinical recommendations are intended to address screening for adrenal insufficiency in boys identified to have ALD by newborn screen. Participants: Seven members of the Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee, with clinical experience treating children with ALD and adrenal insufficiency, and a pediatric endocrinologist and laboratory director were selected to be on the working committee. Consensus Process: The authors comprised the working group and performed systematic reviews of the published literature regarding adrenal insufficiency and ALD. The recommendations were reviewed and approved by the larger Pediatric Endocrine Society Drug and Therapeutics/Rare Diseases Committee and then by the Pediatric Endocrine Society Board of Directors. Conclusions: There is limited literature evidence regarding monitoring of evolving adrenal insufficiency in male infants and children with ALD. The recommendations suggest initiating assessment of adrenal function at diagnosis with ALD and regular monitoring to identify boys with adrenal insufficiency in a timely manner and prevent life-threatening adrenal crisis. These recommendations are intended to serve as an initial guide, with the understanding that additional experience will inform future guidelines.

Original languageEnglish (US)
Pages (from-to)4324-4331
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Issue number11
StatePublished - 2018

Bibliographical note

Funding Information:
TheauthorsthankthemembersoftheBoardofDirectorsandthe larger Drug and Therapeutics/Rare Diseases Committee of the Pediatric Endocrine Society for thoughtful review and constructive comments of the proposed recommendations and manuscript.

Publisher Copyright:
Copyright © 2018 Endocrine Society.


  • Adrenal disorders
  • Adrenoleukodystrophy

PubMed: MeSH publication types

  • Journal Article
  • Practice Guideline
  • Systematic Review


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