Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):933-6. doi: 10.1515/jpem-2014-0401.

Abstract

Triple A syndrome, formerly known as Allgrove syndrome, is an autosomal recessive disorder characterized clinically by adrenal insufficiency, alacrima, achalasia, and neurological abnormalities. We report a 17-year-old boy presented to the endocrine clinic with delayed puberty and a 4-year's history of fatigue and muscle weakness. He had achalasia, alacrima, and skin and mucosal hyperpigmentation. Hormonal assessment revealed isolated glucocorticoid deficiency. Clinical diagnosis of triple A syndrome was confirmed by sequencing the entire coding region including exon-intron boundaries of the AAAS gene. Analysis revealed a homozygous novel indel mutation encompassing intron 7 to intron 10 of the gene (g.16166_17813delinsTGAGGCCTGCTG; NG_016775). This is the first report of triple A syndrome in Jordan with a novel indel mutation and presenting with delayed puberty.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adrenal Insufficiency / genetics*
  • Adrenal Insufficiency / pathology
  • Esophageal Achalasia / genetics*
  • Esophageal Achalasia / pathology
  • Female
  • Humans
  • INDEL Mutation / genetics*
  • Jordan
  • Male
  • Nerve Tissue Proteins / genetics*
  • Nuclear Pore Complex Proteins / genetics*
  • Pedigree
  • Prognosis
  • Puberty, Delayed / genetics*
  • Puberty, Delayed / pathology

Substances

  • AAAS protein, human
  • Nerve Tissue Proteins
  • Nuclear Pore Complex Proteins

Supplementary concepts

  • Achalasia Addisonianism Alacrimia syndrome