Author:
Bustanji Haidar,Sahar Bashar,Huebner Angela,Ajlouni Kamel,Landgraf Dana,Hamamy Hanan,Koehler Katrin
Abstract
AbstractTriple 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
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Reference14 articles.
1. Three siblings with triple A syndrome with a novel frameshift mutation in the AAAS gene and a review of independent patients with the frequent p Pro mutation;Milenkovic;Eur J Pediatr,2008
2. marriages pearls perils International Consanguinity Workshop Report;Hamamy;Genet Med,2011
3. resistance syndromes;Huebner;J Pediatr Endocrinol Metab,1999
4. Du BH An Alu - mediated rearrangement causing a kb deletion and a novel two base pair deletion in AAAS gene as the cause of triple A syndrome;Qin;Mol Genet Metab,2007
5. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production;Allgrove;Lancet,1978
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