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.
| Identifer | oai:union.ndltd.org:DRESDEN/oai:qucosa:de:qucosa:38562 |
| Date | 23 June 2020 |
| Creators | Bustanji, Haidar, Sahar, Bashar, Hübner, Angela, Ajlouni, Kamel, Landgraf, Dana, Hamamy, Hanan, Koehler, Katrin |
| Publisher | De Gruyter |
| Source Sets | Hochschulschriftenserver (HSSS) der SLUB Dresden |
| Language | English |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, doc-type:article, info:eu-repo/semantics/article, doc-type:Text |
| Rights | info:eu-repo/semantics/openAccess |
| Relation | 0334-018X, 2191-0251, 10.1515/jpem-2014-0401 |
Page generated in 0.0023 seconds