Abstract
The authors present a family with three children affected with triple A syndrome — one had died, one was saved by diagnosis and timely therapy, and one was born after the diagnosis in the second child. The gene for the syndrome has been cloned and genetic counseling should be offered to these families.
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Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production.Lancet 1978; 1:1284–1286.
Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi Bet al. Mutant WD-repeat protein in triple-A syndrome.Nat Genet 2000; 26: 332–335.
Huebner A, Kaindl AM, Braun R, Handschug K. New insights into the molecular basis of the triple A syndrome.Endocr Res 2002; 28: 733–739.
Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NWet al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome.Brain 2002; 125: 2681–2690.
Huebner A, Yoon SJ, Ozkinay F, Hilscher C, Lee H, Clark AJ, Handschug K. Triple A syndrome — clinical aspects and molecular genetics.Endocr Res 2000; 26: 751–759.
Shivananda N, Premlatha R, Raheela, Gayathri P., Triple A syndrome.Indian Pediatr 1998; 35: 1131–1135.
Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Heubner A. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.Hum Mol Genet 2001; 10: 283–290.
Clark AJ, Weber A. Molecular insight into inherited ACTH resistance syndromes.Trends Endocr Metab 1994; 5: 209–214.
Sandrini F, Farmakidis C, Kirschner LS, Wu SM, Tullio-Pelet A, Lyonnet Set al. Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotrophin.J Clin Endrocrinol Metab 2001; 86: 5433–5437.
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Bijarnia, S., Venna, I.C. Triple A syndrome — diagnostic and management issues. Indian J Pediatr 70, 347–349 (2003). https://doi.org/10.1007/BF02723592
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DOI: https://doi.org/10.1007/BF02723592