Endocrine Abstracts

Triple A syndrome (also known as Allgrove’s syndrome, MIM #231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, alacrima and achalasia. Neurological features may also be present. Various combinations of these features may be present which evolve over time. Triple A syndrome is caused by mutations in the AAAS gene which encodes for the protein ALADIN, a member of the nuclear pore complex, whose function is incompletely under...