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- Title
Triple-A Syndrome - The First Chinese Patient with Novel Mutations in the AAAS Gene.
- Authors
Lam, Y. Y.; Lo, Ivan F. M.; Shek, C. C.; Tong, Tony M. F.; Ng, D. K. K.; Tong, T. F.; Choi, M. S.; Lam, Stephen T. S.; Ho, C. S.
- Abstract
We report on the first Chinese patient with triple-A syndrome, who presented at 22 months with status epilepticus secondary to hyponatremia and hypoglycaemia. Subsequent endocrine investigations confirmed primary adrenal insufficiency and aldosterone deficiency. In the presence of achalasia and alacrima, this patient satisfies the diagnostic criteria of triple-A syndrome. Further molecular testing detected compound heterozygous mutations in the AAAS gene: a c.580C→T transition in exon 7 and a c.771delG single nucleotide deletion in exon 8. Testing of parents and brother confirmed their heterozygous carrier status.
- Publication
Journal of Pediatric Endocrinology & Metabolism, 2006, Vol 19, Issue 5, p765
- ISSN
0334-018X
- Publication type
Article
- DOI
10.1515/jpem.2006.19.5.765