Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.

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Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.

J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):933-6

Authors: Bustanji H, Sahar B, Huebner A, Ajlouni K, Landgraf D, Hamamy H, Koehler K

Abstract
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.

PMID: 25781531 [PubMed - indexed for MEDLINE]

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