hrp0082p3-d1-629 | Adrenals & HP Axis | ESPE2014

Clinical and Genetic Diagnosis of Allgrove Syndrome

Todorova Zdravka , Stefanova Elissaveta , Litvinenko Ivan , Kazakova Krasimira , Yaneva Penka , Yordanova Desislava , Dimitrova Mihaela

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...