Allgrove syndrome (AS), also known as triple A syndrome, is an autosomal recessive inherited disorder characterized by a triad of alacrimia, achalasia, and adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency. We present a case of a 16-year-old male presenting with the classic triad and a homozygous mutation in the Aladin WD Repeat Nucleoporin (AAAS gene). Genetic analysis and detection of AAAS gene mutation is the cornerstone of diagnosis. Delayed detection results in multiple hospital admissions and life-threatening complications. More data and research are needed to aid in expanding the knowledge about Allgrove syndrome in the literature.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.