hrp0089p2-p029 | Adrenals and HPA Axis P2 | ESPE2018
Akinci Aysehan
, Dundar Ismail
, Camtosun Emine
, Kayas Leman
Allgroves 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. ...