Phenotypic heterogeneity in AAAS gene mutation

Acta Paediatrica
P BaratA Barthelemy

Abstract

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. Our observations corroborate the phenotypic heterogeneity reported in triple A syndrome, and underline the possibility of a variable intra-familial expression.

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