Allgrove syndrome.
- Author:
Fatih KILICLI
1
;
Fettah ACIBUCU
;
Soner SENEL
;
Hatice Sebila DOKMETAS
Author Information
- Publication Type:Case Reports
- MeSH: Adrenal Insufficiency; blood; diagnosis; genetics; Adrenocorticotropic Hormone; blood; Diagnosis, Differential; Diagnostic Techniques, Ophthalmological; Endoscopy, Gastrointestinal; Esophageal Achalasia; blood; diagnosis; genetics; Female; Humans; Mutation; Nerve Tissue Proteins; blood; genetics; Nuclear Pore Complex Proteins; blood; genetics; Young Adult
- From:Singapore medical journal 2012;53(5):e92-4
- CountrySingapore
- Language:English
- 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.
