The triple A or Allgrove syndrome is an autosomal-recessive disease (MIM*231550) 
characterized by the triad of achalasia, alacrima and adrenocorticotropic 
hormone (ACTH)-resistant adrenal insufficiency. Associated features of the 
syndrome are neurological and dermatological abnormalities. Until the discovery 
of the AAAS gene as the responsible gene in triple A syndrome, the diagnosis was 
based on characteristic clinical features. Here we present the clinical and 
molecular genetic data which demonstrated the marked phenotypic variability in 
three unrelated patients with triple A syndrome. The final diagnosis of triple A 
syndrome was confirmed by molecular analysis. In one patient with isolated 
achalasia, the diagnosis of triple A syndrome could only be made on the basis of 
the molecular genetic analysis of the AAAS gene. We therefore suggest that the 
diagnosis of triple A syndrome should be considered in patients who exhibit only 
one or two of the main symptoms (i.e. alacrima, achalasia or adrenal 
insufficiency). These patients require careful neurological investigation, and 
mutation analysis of the AAAS gene should be performed.