Address of Corresponding Author

Horm Res 2006;65:171-176 (DOI: 10.1159/000092003)

  Key Words

• Triple A syndrome
• Allgrove syndrome
• Delayed puberty
• Adrenal insufficiency
• AAAS gene
• Osteoporosis
• Achalasia
• Alacrima

  Abstract

Objective: The clinical and molecular data of a patient with triple A syndrome are reported. Patient: A 21-year-old male who was diagnosed for adrenal insufficiency at the age of 2 years after a severe attack of adrenal crisis. At the age of 4 years, achalasia and alacrima were diagnosed. Puberty started at the age of 17 years. At the same time, symptoms of central, peripheral, and autonomic nervous system dysfunction were noted. Later on, at the age of 20 years, a bone age delay of 6 years and severe osteoporosis was diagnosed. Results: A compound heterozygous AAAS mutation consisting of two mutations was found: a C > T transition in exon 7 resulting in a change of arginine at amino acid position 194 into a stop codon (Arg194X) at one allele, and a C > T transition in exon 12 resulting in a change of glutamine at amino acid position 387 into a stop codon (Gln387X) on the other allele. Conclusion: The mutation in exon 7 (p.R194X) of the AAAS gene is a novel mutation which has not been found in any other family so far, whereas the second was already found in some other families. This case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene.

Copyright © 2006 S. Karger AG, Basel

  Author Contacts

Tina Dusek, MD
Clinical Hospital Center Zagreb
Department of Internal Medicine, Division of Endocrinology
Kispaticeva 12, HR-10000 Zagreb (Croatia)
Tel. +385 91 543 4014, Fax +385 1 242 0517, E-Mail tdusek@mef.hr

  Article Information

Received: August 29, 2005
Accepted: January 14, 2006
Published online: March 15, 2006
Number of Print Pages : 6
Number of Figures : 1, Number of Tables : 2, Number of References : 28