Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty: Patient report

Autor:	Bustanji, Haidar, Sahar, Bashar, Hübner, Angela, Ajlouni, Kamel, Landgraf, Dana, Hamamy, Hanan, Koehler, Katrin
Jazyk:	angličtina
Rok vydání:	2015
Předmět:	Achalasie Nebennierenrindeninsuffizienz Alakrie verzögerte Pubertät Indel-Mutation Triple-A-Syndrom achalasia adrenal insufficiency alacrima delayed puberty indel mutation triple A syndrome info:eu-repo/classification/ddc/610 ddc:610
Druh dokumentu:	Článek
ISSN:	0334-018X 2191-0251
DOI:	10.1515/jpem-2014-0401
Popis:	Triple A syndrome, formerly known as Allgrove syndrome, is an autosomal recessive disorder characterized clinically by adrenal insufficiency, alacrima, achalasia, and neurological abnormalities. We report a 17-year-old boy presented to the endocrine clinic with delayed puberty and a 4-year’s history of fatigue and muscle weakness. He had achalasia, alacrima, and skin and mucosal hyperpigmentation. Hormonal assessment revealed isolated glucocorticoid deficiency. Clinical diagnosis of triple A syndrome was confirmed by sequencing the entire coding region including exon-intron boundaries of the AAAS gene. Analysis revealed a homozygous novel indel mutation encompassing intron 7 to intron 10 of the gene (g.16166_17813delinsTGAGGCCTGCTG; NG_016775). This is the first report of triple A syndrome in Jordan with a novel indel mutation and presenting with delayed puberty.
Databáze:	Networked Digital Library of Theses & Dissertations
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