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.

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