A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene.

Allgrove syndrome, also known as triple A syndrome (OMIM #231550), is a rare autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone (ACTH)-resistant adrenal insufficiency, achalasia and alacrima. It is caused by mutations of the AAAS gene, which is located on chromosome 12q13, encoding the WD-repeat protein ALADIN (alacrima-achalasia-adrenal insufficiency neurologic disorder) (1). Herein, we present a case of a two-year-old girl with a genetically confirmed diagnosis of Allgrove syndrome resulting from a novel homozygous mutation of the AAAS gene.