Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review

Liane Eng; Molly O Regelmann

doi:10.1016/j.jpeds.2019.04.021

Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review

J Pediatr. 2019 Aug:211:211-214. doi: 10.1016/j.jpeds.2019.04.021. Epub 2019 May 14.

Authors

Liane Eng¹, Molly O Regelmann²

Affiliations

¹ Division of Pediatric Endocrinology and Diabetes, The Children's Hospital at Montefiore, Albert Einstein School of Medicine, Bronx, NY.
² Division of Pediatric Endocrinology and Diabetes, The Children's Hospital at Montefiore, Albert Einstein School of Medicine, Bronx, NY. Electronic address: moregelm@montefiore.org.

PMID: 31101408
DOI: 10.1016/j.jpeds.2019.04.021

Abstract

The lifetime risk for adrenal insufficiency in male children with adrenoleukodystrophy (ALD) is estimated at 80%-86%. Prior to newborn screening, male children with ALD were identified by family history or after symptom development. These young patients with ALD and adrenal insufficiency support newborn screening for ALD.

Keywords: newborn screening.

Publication types

Case Reports
Review

MeSH terms

3' Untranslated Regions / genetics
ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics
Adrenal Insufficiency / diagnosis*
Adrenal Insufficiency / drug therapy
Adrenoleukodystrophy / diagnosis*
Adrenoleukodystrophy / genetics
Child, Preschool
Early Diagnosis
Hormone Replacement Therapy
Humans
Hydrocortisone / therapeutic use
Infant
Infant, Newborn
Male
Mutation
Neonatal Screening
Polymorphism, Genetic

Substances

3' Untranslated Regions
ABCD1 protein, human
ATP Binding Cassette Transporter, Subfamily D, Member 1
Hydrocortisone