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...

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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
Descripción
Sumario: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.

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