Allgrove's syndrome is an autosomal recessive disorder with varied presentations.14,15 Recent studies have identified mutation in AAA syndrome of a candidate gene on chromosome 12 q 13 in these patients.16 Prpic et al (2003) demonstrated marked phenotypic variability in three patients with genetically confirmed triple A syndrome.
Since the first reported case of AAA syndrome in 1978, over 100 cases presenting with the clinical features of esophageal achalasia, alacrimia, and adrenal insufficiency have been described.19