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

Bustanji, Haidar ; Sahar, Bashar ; Huebner, Angela ; Ajlouni, Kamel ; Landgraf, Dana ; Hamamy, Hanan ; Koehler, Katrin

In: Journal of Pediatric Endocrinology and Metabolism, 2015, vol. 28, no. 7-8, p. 933-936

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    Titre
    • Triple A syndrome with a novel indel mutation in the AAAS gene and delayed puberty
    Auteur
    • Bustanji, Haidar. National Center for Diabetes, Endocrinology and Genetics, PO. Box 13165, 11942 Amman, Jordan
    • Sahar, Bashar. National Center for Diabetes, Endocrinology and Genetics, PO. Box 13165, 11942 Amman, Jordan
    • Huebner, Angela. Children's Hospital, Medizinische Fakultät, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    • Ajlouni, Kamel. National Center for Diabetes, Endocrinology and Genetics, PO. Box 13165, 11942 Amman, Jordan
    • Landgraf, Dana. Children's Hospital, Medizinische Fakultät, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    • Hamamy, Hanan. Department of Genetic Medicine and Development, Geneva University, CH 1211 Geneva 4, Switzerland
    • Koehler, Katrin. Children's Hospital, Medizinische Fakultät, Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • Journal of Pediatric Endocrinology and Metabolism, 2015, vol. 28, no. 7-8, p. 933-936. De Gruyter
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:324922
    Summary
    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.