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Table of Contents
Vol. 56, No. 1-2, 2001
Issue release date: 2001
Section title: Case Report
Horm Res 2001;56:67–72
(DOI:10.1159/000048093)

Clinical and Novel Molecular Findings in a 6.8-Year-Old Turkish Boy with Triple A Syndrome

Schmittmann-Ohters K.a · Huebner A.b · Richter-Unruh A.a · Hauffa B.P.a
aDepartment of Hematology/Oncology and Endocrinology, University Children’s Hospital, Essen, and bChildren’s Hospital, Technical University Dresden, Germany

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Article / Publication Details

First-Page Preview
Abstract of Case Report

Published online: January 31, 2002
Issue release date: 2001

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Background: The triple A syndrome is characterized by the main features adrenal insufficiency, achalasia and alacrima. Other organ systems can be involved in a variable manner. Patient: We report clinical and novel molecular findings in a 6.8-year-old Kurdish boy, who presented with relapsing vomiting and failure to thrive. He was diagnosed as having achalasia and primary adrenocortical hypofunction. History and clinical examination showed that the boy was unable to produce tears. In addition, a large number of associated neurological and dermatological features was present in this patient. Thus, the clinical diagnosis of triple A syndrome was made. Results: Initial molecular marker analysis supported linkage to the triple A critical region on chromosome 12q13. Further, a homozygous G → A transition in exon 9 of the newly identified AAAS gene, resulting in a stop codon (W295X) and predicting a truncated protein with loss of function, confirmed the diagnosis. This new mutation was also detected in another family of Kurdish origin. In turned out that both families were related.

© 2002 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Case Report

Published online: January 31, 2002
Issue release date: 2001

Number of Print Pages: 6
Number of Figures: 2
Number of Tables: 2

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


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