title: Allgrove syndrome.
abstract: Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13. We report the case of a 23-year-old woman who presented at the hospital with adrenal crisis that was triggered by infection of the urinary system and gastrointestinal bleeding. She had a known diagnosis of achalasia for eight years, and ophthalmologic examination revealed alacrima. Based on our findings, the patient was diagnosed with Allgrove syndrome.
authors.affiliation: Department of Endocrinology and Metabolism, Cumhuriyet University, Sivas, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Kilicli
authors.forename: Fettah
authors.initials: F
authors.lastname: Acibucu
authors.forename: Soner
authors.initials: S
authors.lastname: Senel
authors.forename: Hatice Sebila
authors.initials: HS
authors.lastname: Dokmetas
mesh_terms: D000309:Adrenal Insufficiency / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D000324:Adrenocorticotropic Hormone / Q000097:blood; D003937:Diagnosis, Differential; D003941:Diagnostic Techniques, Ophthalmological; D016099:Endoscopy, Gastrointestinal; D004931:Esophageal Achalasia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000097:blood / Q000235:genetics; D028861:Nuclear Pore Complex Proteins / Q000097:blood / Q000235:genetics; D055815:Young Adult
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D000324:Adrenocorticotropic Hormone