Phenotypic heterogeneity in AAAS gene mutation

We report the cases of two sibs of North African origin with AAAS gene mutation characterized by the heterogeneity of their phenotype. While an 8-y-old boy presented with acute adrenal insufficiency and mental retardation, the diagnosis was suggested by the clinical history of his 6-y-old sister who had symptomatic achalasia and chronic adrenal failure. Conclusion: Our observations corroborate the phenotypic heterogeneity reported in triple A I syndrome, and underline the possibility of a variable intra-familial expression.