P175: Allgrove syndrome: Case report and literatures review

Genetics in Medicine Open 2026 Open access

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Authors: Panida Soontrapornchai, Anna Hurst, James Callaway, Gail J. Mick, Pongtawat Lertwilaiwittaya
DOI: 10.1016/j.gimo.2026.103669
Cited by: 0

Abstract

Allgrove syndrome (OMIM 231550; Triple A syndrome) is an ultra-rare disease with an estimated prevalence of 1/1,000,000. The disease is known for its classic triad of achalasia, adrenal insufficiency and alacrimia, with the 4th “A” being autonomic nervous system involvement and the 5th “A” being amyotrophy. We report a 16-year-old female who presented with post-endoscopic adrenal shock after diagnostic work up for Achalasia. Allgrove syndrome was suspected and confirmed with compound heterozygote pathogenic variants AAAS: c.57_58del (p.Tyr19*), c.855_856delinsTT (p.Arg286*).

Fields of Study & Subjects

Genomics and Rare Diseases Adrenal Hormones and Disorders Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103669–103669
Publication date
1 January 2026
Language
EN