Endocrinology & Metabolic Syndrome
Open Access
ISSN: 2161-1017
+44 1478 350008
ISSN: 2161-1017
+44 1478 350008
Maria L Hansen
Hospital of Southwest Denmark,
Haraldsgade 5, Esbjerg-6700
Denmark
Case Report
Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient
Author(s): Maria L Hansen, Anja L Frederiksen and Claus B JuhlMaria L Hansen, Anja L Frederiksen and Claus B Juhl
Triple-A syndrome known as Allgroves syndrome classically present with: achalasia, alacrimia and adrenal insufficiency. Ataxia and autonomic dysfunction is additionally described in many cases. We present a case report of a young man of Pakistan origin with achalasia, alacrimia, adrenal insufficiency, ataxia and autonomic dysfunction. Genetic screening identified a novel mutation in the AAAS gene resulting in a homozygous point-mutation.. View More»
DOI:
10.4172/2161-1017.1000186