SAT-219 Allgrove Syndrome: How to Suspect a Problem?
نویسندگان
چکیده
منابع مشابه
Allgrove syndrome.
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....
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A genetic syndrome is a clinical situation that combines major and minor malformations, anomalies of growth and of psychomotor development . Prompt recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests, the performance of wellinformed genetic counseling related to issues such as prognosis and future family planning and...
متن کاملAllgrove Syndrome: Adrenal Insufficiency with Hypertensive Encephalopathy.
Allgrove syndrome or triple-Asyndrome is a rare familial multisystem autosomal recessive disorder. It is characterised by triad of alacrima, achalasia and adrenal insufficiency due to adrenocorticotropin hormone (ACTH) resistance. If it is associated with autonomic dysfunction, it is termed as 4-Asyndrome. This syndrome is caused by a mutation in the Achalasia - Addisonism - Alacrima (AAAS) gen...
متن کاملEdentulous child with Allgrove syndrome: a rare case report
Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency co...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2020
ISSN: 2472-1972
DOI: 10.1210/jendso/bvaa046.356