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

Journal of Pediatric Endocrinology & Metabolism : JPEM
Haidar BustanjiKatrin Koehler

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.

References

Nov 4, 2000·Nature Genetics·A Tullio-PeletS Lyonnet
Feb 13, 2001·Human Molecular Genetics·K HandschugA Huebner
May 11, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hanan HamamyAlan H Bittles

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Citations

Jun 7, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Kanika SinghIshwar C Verma
Sep 30, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Christy Foster, Abha Choudhary
Sep 28, 2016·World Journal of Gastroenterology : WJG·Janette Furuzawa-CarballedaGonzalo Torres-Villalobos
Jun 14, 2020·Protein and Peptide Letters·Gabriele PogliaghiMarco Bonomi

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