MON-LB067 AAA Syndrome in a 30 Year Old Man Presenting for Primary Adrenal Insufficiency Management

Abstract

AAA syndrome or Allgrove Syndrome is a rare autosomal recessive congenital disease characterized by the triad of adrenal insufficiency (Addison's disease), failure of the lower esophageal sphincter to relax (achalasia) and absence of tear secretion (alacrima). The syndrome is frequently seen in childhood. Here we describe a 30 year old man who presented to an adult endocrinology clinic for continued management of primary adrenal insufficiency, which had been diagnosed at age 2 and considered a sequela of a disseminated meningococcal infection (Waterhouse-Friderichsen syndrome). He had been treated chronically with cortisone acetate and fludrocortisone. Multiple subsequent hospitalizations for treatment of adrenal crises occurred in childhood. Dysphagia associated with poor weight gain was present since birth. There had been an absence of tear production. An ACTH level was elevated, and cosyntropin administration had failed to augment the serum cortisol level. He has had negative Schirmer test, distal esophageal narrowing on barium esophagram and multiple esophageal dilation therapy for treatment of achalasia. AAAS gene sequencing showed homozygous mutations of AAAS gene on chromosome 12q13 which encodes ALADIN. Based on clinical features and investigation noted upon presentation to our clinic, followed by genetic testing, the diagnosis of AAA syndrome (or Allgrove syndrome) was made. Unless otherwise noted, all abstracts presented at ENDO are embargoed until the date and time of presentation. For oral presentations, the abstracts are embargoed until the session begins. s presented at a news conference are embargoed until the date and time of the news conference. The Endocrine Society reserves the right to lift the embargo on specific abstracts that are selected for promotion prior to or during ENDO.