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Allgrove syndrome.
- Source :
-
Singapore medical journal [Singapore Med J] 2012 May; Vol. 53 (5), pp. e92-4. - Publication Year :
- 2012
-
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.
- Subjects :
- Adrenal Insufficiency blood
Adrenal Insufficiency genetics
Adrenocorticotropic Hormone blood
Diagnosis, Differential
Diagnostic Techniques, Ophthalmological
Endoscopy, Gastrointestinal
Esophageal Achalasia blood
Esophageal Achalasia genetics
Female
Humans
Mutation
Nerve Tissue Proteins blood
Nerve Tissue Proteins genetics
Nuclear Pore Complex Proteins blood
Nuclear Pore Complex Proteins genetics
Young Adult
Adrenal Insufficiency diagnosis
Esophageal Achalasia diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 2737-5935
- Volume :
- 53
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Singapore medical journal
- Publication Type :
- Academic Journal
- Accession number :
- 22584989