Triple A Multisystem Disorder: Allgrove Syndrome

Allgrove syndrome (AS), also known as triple A syndrome, is an autosomal recessive inherited disorder characterized by a triad of alacrimia, achalasia, and adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency. We present a case of a 16-year-old male presenting with the classic triad a...

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Autores principales: Alhassoun, Mohamad, Almakadma, Abdul Hakim, Almustanyir, Sami, AlLehibi, Abed, Alotaibi, Nawaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405170/
https://www.ncbi.nlm.nih.gov/pubmed/34513526
http://dx.doi.org/10.7759/cureus.17476
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author Alhassoun, Mohamad
Almakadma, Abdul Hakim
Almustanyir, Sami
AlLehibi, Abed
Alotaibi, Nawaf
author_facet Alhassoun, Mohamad
Almakadma, Abdul Hakim
Almustanyir, Sami
AlLehibi, Abed
Alotaibi, Nawaf
author_sort Alhassoun, Mohamad
collection PubMed
description Allgrove syndrome (AS), also known as triple A syndrome, is an autosomal recessive inherited disorder characterized by a triad of alacrimia, achalasia, and adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency. We present a case of a 16-year-old male presenting with the classic triad and a homozygous mutation in the Aladin WD Repeat Nucleoporin (AAAS gene). Genetic analysis and detection of AAAS gene mutation is the cornerstone of diagnosis. Delayed detection results in multiple hospital admissions and life-threatening complications. More data and research are needed to aid in expanding the knowledge about Allgrove syndrome in the literature.
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spelling pubmed-84051702021-09-09 Triple A Multisystem Disorder: Allgrove Syndrome Alhassoun, Mohamad Almakadma, Abdul Hakim Almustanyir, Sami AlLehibi, Abed Alotaibi, Nawaf Cureus Endocrinology/Diabetes/Metabolism Allgrove syndrome (AS), also known as triple A syndrome, is an autosomal recessive inherited disorder characterized by a triad of alacrimia, achalasia, and adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency. We present a case of a 16-year-old male presenting with the classic triad and a homozygous mutation in the Aladin WD Repeat Nucleoporin (AAAS gene). Genetic analysis and detection of AAAS gene mutation is the cornerstone of diagnosis. Delayed detection results in multiple hospital admissions and life-threatening complications. More data and research are needed to aid in expanding the knowledge about Allgrove syndrome in the literature. Cureus 2021-08-26 /pmc/articles/PMC8405170/ /pubmed/34513526 http://dx.doi.org/10.7759/cureus.17476 Text en Copyright © 2021, Alhassoun 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
Alhassoun, Mohamad
Almakadma, Abdul Hakim
Almustanyir, Sami
AlLehibi, Abed
Alotaibi, Nawaf
Triple A Multisystem Disorder: Allgrove Syndrome
title Triple A Multisystem Disorder: Allgrove Syndrome
title_full Triple A Multisystem Disorder: Allgrove Syndrome
title_fullStr Triple A Multisystem Disorder: Allgrove Syndrome
title_full_unstemmed Triple A Multisystem Disorder: Allgrove Syndrome
title_short Triple A Multisystem Disorder: Allgrove Syndrome
title_sort triple a multisystem disorder: allgrove syndrome
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8405170/
https://www.ncbi.nlm.nih.gov/pubmed/34513526
http://dx.doi.org/10.7759/cureus.17476
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