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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: AlOmran, Hashem A, Busaleh, Fadi, Alhashim, Zahra, AlHelal, Manal, Alsaleh, Yasen, AlJabri, Aida, AlGhadeer, Zahra A, AlHejji, Fatimah Y, AlMazeedi, Mousa, Al dandan, Abdulelah M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8648336/
https://www.ncbi.nlm.nih.gov/pubmed/34900490
http://dx.doi.org/10.7759/cureus.19316
_version_ 1784610780507799552
author AlOmran, Hashem A
Busaleh, Fadi
Alhashim, Zahra
AlHelal, Manal
Alsaleh, Yasen
AlJabri, Aida
AlGhadeer, Zahra A
AlHejji, Fatimah Y
AlMazeedi, Mousa
Al dandan, Abdulelah M
author_facet AlOmran, Hashem A
Busaleh, Fadi
Alhashim, Zahra
AlHelal, Manal
Alsaleh, Yasen
AlJabri, Aida
AlGhadeer, Zahra A
AlHejji, Fatimah Y
AlMazeedi, Mousa
Al dandan, Abdulelah M
author_sort AlOmran, Hashem A
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8648336
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-86483362021-12-10 Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report AlOmran, Hashem A Busaleh, Fadi Alhashim, Zahra AlHelal, Manal Alsaleh, Yasen AlJabri, Aida AlGhadeer, Zahra A AlHejji, Fatimah Y AlMazeedi, Mousa Al dandan, Abdulelah M Cureus Endocrinology/Diabetes/Metabolism 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. Cureus 2021-11-06 /pmc/articles/PMC8648336/ /pubmed/34900490 http://dx.doi.org/10.7759/cureus.19316 Text en Copyright © 2021, AlOmran et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
AlOmran, Hashem A
Busaleh, Fadi
Alhashim, Zahra
AlHelal, Manal
Alsaleh, Yasen
AlJabri, Aida
AlGhadeer, Zahra A
AlHejji, Fatimah Y
AlMazeedi, Mousa
Al dandan, Abdulelah M
Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report
title Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report
title_full Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report
title_fullStr Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report
title_full_unstemmed Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report
title_short Mineralocorticoid Deficiency as an Early Presenting Symptom of Allgrove Syndrome With Novel Mutation: A Case Report
title_sort mineralocorticoid deficiency as an early presenting symptom of allgrove syndrome with novel mutation: a case report
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8648336/
https://www.ncbi.nlm.nih.gov/pubmed/34900490
http://dx.doi.org/10.7759/cureus.19316
work_keys_str_mv AT alomranhashema mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT busalehfadi mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT alhashimzahra mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT alhelalmanal mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT alsalehyasen mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT aljabriaida mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT alghadeerzahraa mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT alhejjifatimahy mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT almazeedimousa mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport
AT aldandanabdulelahm mineralocorticoiddeficiencyasanearlypresentingsymptomofallgrovesyndromewithnovelmutationacasereport

Ejemplares similares