| Autor: |
Bustanji, Haidar, Sahar, Bashar, Huebner, Angela, Ajlouni, Kamel, Landgraf, Dana, Hamamy, Hanan, Koehler, Katrin |
| Zdroj: |
Journal of Pediatric Endocrinology & Metabolism; July 2015, Vol. 28 Issue: 7-8 p933-936, 4p |
| Abstrakt: |
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 AAASgene. 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: |
Supplemental Index |
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