Table of Contents
ISRN Endocrinology
Volume 2011 (2011), Article ID 462759, 5 pages
Case Report

Growth Hormone Deficiency, Short Stature, and Juvenile Rheumatoid Arthritis in a Patient with Autoimmune Polyglandular Syndrome Type 1: Case Report and Brief Review of the Literature

1Internal Medicine, Memorial university of Newfoundland, Canada A1B 3V6
2Division of Endocrinology, Health Sciences Center, Faculty of Medicine, Memorial University of Newfoundland, 300 Prince Philip Drive, St. John's, NL, Canada A1B 3V6

Received 3 March 2011; Accepted 22 March 2011

Academic Editors: E. Al-Dujaili and D. Villa-Verde

Copyright © 2011 Teresa Pun and Vikram Chandurkar. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. Neufeld, N. Maclaren, and R. Blizzard, “Autoimmune polyglandular syndromes,” Pediatric Annals, vol. 9, no. 4, pp. 154–162, 1980. View at Google Scholar
  2. M. Neufeld, N. K. Maclaren, and R. M. Blizzard, “Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes,” Medicine, vol. 60, no. 5, pp. 355–362, 1981. View at Google Scholar
  3. C. Betterle, C. Dal Pra, F. Mantero, and R. Zanchetta, “Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: Autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction,” Endocrine Reviews, vol. 23, no. 3, pp. 327–364, 2002. View at Publisher · View at Google Scholar
  4. D. Mathis and C. Benoist, “A decade of AIRE,” Nature Reviews Immunology, vol. 7, no. 8, pp. 645–650, 2007. View at Publisher · View at Google Scholar
  5. A. Franzese, G. Valerio, S. Di Maio, M. P. Iannucci, A. Bloise, and A. Tenore, “Growth hormone insufficiency in a girl with the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy,” Journal of Endocrinological Investigation, vol. 22, no. 1, pp. 66–69, 1999. View at Google Scholar
  6. L. Ward, J. Paquette, E. Seidman et al., “Severe autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in an adolescent girl with a novel AIRE mutation: Response to immunosuppressive therapy,” Journal of Clinical Endocrinology and Metabolism, vol. 84, no. 3, pp. 844–852, 1999. View at Google Scholar
  7. N. Maclaren, Q. Y. Chen, A. Kukreja, J. Marker, C. H. Zhang, and Z. S. Sun, “Autoimmune hypogonadism as part of an autoimmune polyglandular syndrome,” Journal of the Society for Gynecologic Investigation, vol. 8, no. 1 Suppl Proceedings, pp. S52–S54, 2001. View at Google Scholar
  8. D. Y. Aksoy, K. Agbaht, O. Harmanci et al., “Autoimmune polyendocrine syndrome with atrial septal defect,” American Journal of the Medical Sciences, vol. 335, no. 2, pp. 157–159, 2008. View at Publisher · View at Google Scholar
  9. J. -H. Lu, M. -Y. Chung, H. Betau, H. -P. Chien, and J. -K. Lu, “Molecular characterization of tetralogy of fallot within DiGeorge critical region of the chromosome 22,” Pediatric Cardiology, vol. 22, no. 4, pp. 279–284, 2001. View at Google Scholar
  10. K. Nagamine, P. Peterson, H. S. Scott et al., “Positional cloning of the APECED gene,” Nature Genetics, vol. 17, no. 4, pp. 393–398, 1997. View at Google Scholar
  11. K. T. Podkrajsek, T. Milenković, R. J. Odink et al., “Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1,” European Journal of Endocrinology, vol. 159, no. 5, pp. 633–639, 2008. View at Publisher · View at Google Scholar
  12. M. Cicchinelli, M. Mariani, and F. Scuderi, “Polyglandular autoimmune syndrome type II and rheumatoid arthritis,” Clinical and Experimental Rheumatology, vol. 15, no. 3, pp. 336–337, 1997. View at Google Scholar
  13. P. Ahonen, S. Myllarniemi, I. Sipila, and J. Perheentupa, “Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients,” New England Journal of Medicine, vol. 322, no. 26, pp. 1829–1836, 1990. View at Google Scholar · View at Scopus
  14. Jaakko Perheentupa, “Extensive clinical erperience: autoimmune polyendocrinopathy-candidiasis- ectodermal dystrophy,” The Journal of Clinical Endocrinology & Metabolism, vol. 91, no. 8, pp. 2843–2850, 2006. View at Google Scholar