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

Autor:	AlOmran HA; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., Busaleh F; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., Alhashim Z; Pediatric Endocrinology, Maternity and Children Hospital, Al-Ahsa, SAU., AlHelal M; Pediatric Endocrinology, Maternity and Children Hospital, Al-Ahsa, SAU., Alsaleh Y; Pediatrics, Maternity and Children Hospital, Al-Ahsa, SAU., AlJabri A; Department of Pediatrics, Ministry of the National Guard - Health Affairs, Al-Ahsa, SAU., AlGhadeer ZA; Medical Intern, King Faisal University, Al-Ahsa, SAU., AlHejji FY; Medical Intern, King Faisal University, Al-Ahsa, SAU., AlMazeedi M; Medicine, King Faisal University, Al-Ahsa, SAU., Al Dandan AM; Medicine, King Faisal University, Al-Ahsa, SAU.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2021 Nov 06; Vol. 13 (11), pp. e19316. Date of Electronic Publication: 2021 Nov 06 (Print Publication: 2021).
DOI:	10.7759/cureus.19316
Abstrakt:	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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, AlOmran et al.)
Databáze:	MEDLINE
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