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J Clin Endocrinol Metab. 2018 Nov 1;103(11):4324-4331. doi: 10.1210/jc.2018-00920.

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn Screen.

Author information

1
Division of Pediatric Endocrinology and Diabetes, Children's Hospital at Montefiore, Albert Einstein School of Medicine, Bronx, New York.
2
Section of Endocrinology, Department of Pediatrics, Nationwide Children's Hospital at The Ohio State University, Columbus, Ohio.
3
Division of Endocrinology, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota.
4
Quest Diagnostics Nichols Institute, San Juan Capistrano, California.
5
Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota.
6
Division of Pediatric Endocrinology and Diabetes, Stanford University, Stanford, California.
7
Pediatric Endocrine Unit, Massachusetts General Hospital for Children and Harvard Medical School, Boston, Massachusetts.

Abstract

Context:

Adrenoleukodystrophy (ALD) is a peroxisomal disorder associated with neurologic decompensation 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.

PMID:
30289543
DOI:
10.1210/jc.2018-00920

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