Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report

Autor:	Zahra A. AlGhadeer, Zahra Alhashim, Fatimah Y. AlHejji, Hashem A. AlOmran, Yasen Alsaleh, Manal AlHelal, Aida AlJabri, Abdulelah M. Al dandan, Mousa AlMazeedi, Fadi Busaleh
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Allgrove Syndrome business.industry achalasia cardia General Engineering Endocrinology/Diabetes/Metabolism Bioinformatics Pediatrics allgrove syndrome triple a syndrome primary adrenal insufficiency Medicine business alacrimia Novel mutation Mineralocorticoid deficiency
Zdroj:	Cureus
ISSN:	2168-8184
Popis:	Allgrove syndrome or Triple-A syndrome is a triad of achalasia, alacrimia, and adrenal insufficiency. It is a rare disease that’s only described in the literature with no known incidence rate. Atypical presentation of some cases is rarely seen, especially with monotonous symptoms. We are describing an early age of presentation with dual symptoms of Allgrove Syndrome than the triplet with novel homozygous variant at c.885G>A in the AAAS gene.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4f165888a62490f41c41a04e06928b http://europepmc.org/articles/PMC8648336 Zobrazit plný text záznamu