title: Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty.
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.
authors.forename: Haidar
authors.initials: H
authors.lastname: Bustanji
authors.forename: Bashar
authors.initials: B
authors.lastname: Sahar
authors.forename: Angela
authors.initials: A
authors.lastname: Huebner
authors.forename: Kamel
authors.initials: K
authors.lastname: Ajlouni
authors.forename: Dana
authors.initials: D
authors.lastname: Landgraf
authors.forename: Hanan
authors.initials: H
authors.lastname: Hamamy
authors.forename: Katrin
authors.initials: K
authors.lastname: Koehler
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000235:genetics* / Q000473:pathology; D004931:Esophageal Achalasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D007597:Jordan; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis; D011628:Puberty, Delayed / Q000235:genetics* / Q000473:pathology
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins