hrp0089p2-p029 | Adrenals and HPA Axis P2 | ESPE2018

Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkısh Family: A Novel Mutation in the ‘Aladin’ Gene

Akinci Aysehan , Dundar Ismail , Camtosun Emine , Kayas Leman

Allgrove’s or ‘4A syndrome’ is a rare autosomal recessive multisystem disorder characterised by adrenocorticotropin hormone resistant adrenal insufficiency,alacrima ,achalasia and neurological abnormalities. The disease-causing gene (AAAS) encodes a protein of 546 amino acids called ‘aladin’ (for alacrima-achalasia-adrenal insufficiency-neurologic disorder). We report two siblings and three cousins suffering from Allgrove syndrome in a Turkish family. ...