Allgrove syndrome (AAA syndrome, triple A syndrome) is a rare disorder initially described in a consanguineous family of French Canadian and Indian heritage. Cases have now been identified in many countries from around the world.
Chromosome: 12q13.13
Gene: AAAS (aladin WD repeat nucleoporin, ALADIN)
Inheritance: autosomal recessive
Key features (AAA):
(1) adrenal insufficiency unresponsive to ACTH (Addison's disease)
(2) achalasia (failure of lower esophageal sphincter to relax)
(3) alacrima (reduced or absent tear production; abnormal Schirmer's test)
Variable findings:
(1) optic atrophy
(2) neurologic abnormalities including autonomic dysfunction and motor weakness
Complications:
(1) adrenal failure during stress
(2) hypoglycemic seizures
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