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International Journal of Endocrinology
Volume 2014 (2014), Article ID 594710, 6 pages
http://dx.doi.org/10.1155/2014/594710
Clinical Study

Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM/42), Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, 05403-900 Sao Paulo, SP, Brazil

Received 26 January 2014; Revised 28 May 2014; Accepted 3 June 2014; Published 23 June 2014

Academic Editor: Maria L. Dufau

Copyright © 2014 Ricardo P. P. Moreira et al. 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. P. W. Speiser and P. C. White, “Congenital adrenal hyperplasia,” The New England Journal of Medicine, vol. 349, no. 8, pp. 776–788, 2003. View at Publisher · View at Google Scholar · View at Scopus
  2. D. P. Merke and S. R. Bornstein, “Congenital adrenal hyperplasia,” The Lancet, vol. 365, no. 9477, pp. 2125–2136, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. T. A. S. S. Bachega, A. E. C. Billerbeck, G. Madureira et al., “Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency,” The Journal of Clinical Endocrinology and Metabolism, vol. 83, no. 12, pp. 4416–4419, 1998. View at Google Scholar · View at Scopus
  4. E. L. Silveira, R. H. Elnecave, E. P. dos Santos et al., “Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia,” Clinical Genetics, vol. 76, no. 6, pp. 503–510, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. N. Gasparini, S. di Maio, M. Salerno, A. Argenziano, A. Franzese, and A. Tenore, “Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency),” Hormone Research, vol. 47, no. 1, pp. 17–22, 1997. View at Google Scholar · View at Scopus
  6. R. P. P. Moreira, A. A. L. Jorge, L. G. Gomes et al., “Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency,” Clinics, vol. 66, no. 8, pp. 1361–1366, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. P. E. Clayton, S. E. Oberfield, E. Martin Ritzén et al., “Consensus: consensus statement on 21-hydroxylase deficiency from The Lawson Wilkins Pediatric Endocrine Society and The European Society for Pediatric Endocrinology,” The Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 9, pp. 4048–4053, 2002. View at Publisher · View at Google Scholar · View at Scopus
  8. T. M. K. Völkl, D. Simm, C. Beier, and H. G. Dörr, “Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,” Pediatrics, vol. 117, no. 1, pp. e98–e105, 2006. View at Publisher · View at Google Scholar · View at Scopus
  9. A. Zimmermann, P. Grigorescu-Sido, C. Alkhzouz et al., “Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,” Hormone Research in Paediatrics, vol. 74, no. 1, pp. 41–49, 2010. View at Publisher · View at Google Scholar · View at Scopus
  10. D. Botero, A. Arango, M. Danon, and F. Lifshitz, “Lipid profile in congenital adrenal hyperplasia,” Metabolism: Clinical and Experimental, vol. 49, no. 6, pp. 790–793, 2000. View at Google Scholar · View at Scopus
  11. E. Charmandari, M. Weise, S. R. Bornstein et al., “Children with classic congenital adrenal hyperplasia have elevated serum leptin concentrations and insulin resistance: potential clinical implications,” The Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 5, pp. 2114–2120, 2002. View at Publisher · View at Google Scholar · View at Scopus
  12. L. Manenschijn, E. L. T. van den Akker, S. W. J. Lamberts, and E. F. C. van Rossum, “Clinical features associated with glucocorticoid receptor polymorphisms: an overview,” Annals of the New York Academy of Sciences, vol. 1179, pp. 179–198, 2009. View at Publisher · View at Google Scholar · View at Scopus
  13. E. L. T. van den Akker, J. W. Koper, E. F. C. van Rossum et al., “Glucocorticoid receptor gene and risk of cardiovascular disease,” Archives of Internal Medicine, vol. 168, no. 1, pp. 33–39, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. R. J. Auchus, “Congenital adrenal hyperplasia in adults,” Current Opinion in Endocrinology, Diabetes and Obesity, vol. 17, no. 3, pp. 210–216, 2010. View at Publisher · View at Google Scholar · View at Scopus
  15. G. W. Liddle, “Clinical pharmacology of the anti-inflammatory steroids,” Clinical Pharmacology and Therapeutics, vol. 2, no. 5, pp. 615–635, 1961. View at Google Scholar · View at Scopus
  16. J. R. Fernández, D. T. Redden, A. Pietrobelli, and D. B. Allison, “Waist circumference percentiles in nationally representative samples of African-American, European-American, and Mexican-American children and adolescents,” Journal of Pediatrics, vol. 145, no. 4, pp. 439–444, 2004. View at Publisher · View at Google Scholar · View at Scopus
  17. S. Dhuper, H. W. Cohen, J. Daniel et al., “Utility of the modified ATP III defined metabolic syndrome and severe obesity as predictors of insulin resistance in overweight children and adolescents: a cross-sectional study,” Cardiovascular Diabetology, vol. 6, article 4, 2007. View at Publisher · View at Google Scholar · View at Scopus
  18. P. Gergics, A. Patocs, J. Majnik et al., “Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction,” Journal of Steroid Biochemistry and Molecular Biology, vol. 100, no. 4-5, pp. 161–166, 2006. View at Publisher · View at Google Scholar · View at Scopus
  19. M. Karl, S. W. J. Lamberts, S. D. Detera-Wadleigh et al., “Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene,” The Journal of Clinical Endocrinology and Metabolism, vol. 76, no. 3, pp. 683–689, 1993. View at Publisher · View at Google Scholar · View at Scopus
  20. C. F. Mooij, J. M. Kroese, H. L. Claahsen-van der Grinten, C. J. Tack, and A. R. M. M. Hermus, “Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia?” Clinical Endocrinology, vol. 73, no. 2, pp. 137–146, 2010. View at Publisher · View at Google Scholar · View at Scopus
  21. N. Reisch, W. Arlt, and N. Krone, “Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency,” Hormone Research in Paediatrics, vol. 76, no. 2, pp. 73–85, 2011. View at Publisher · View at Google Scholar · View at Scopus
  22. W. Arlt, D. S. Willis, S. H. Wild et al., “Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients,” The Journal of Clinical Endocrinology and Metabolism, vol. 95, no. 11, pp. 5110–5121, 2011. View at Google Scholar
  23. P. Sartorato, E. Zulian, S. Benedini et al., “Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,” The Journal of Clinical Endocrinology and Metabolism, vol. 92, no. 3, pp. 1015–1018, 2007. View at Publisher · View at Google Scholar · View at Scopus
  24. A. Marti, M. J. Moreno-Aliaga, J. Hebebrand, and J. A. Martínez, “Genes, lifestyles, and obesity,” International Journal of Obesity, vol. 28, supplement 3, pp. S29–S36, 2004. View at Publisher · View at Google Scholar · View at Scopus
  25. M. A. B. van der Sande, G. E. L. Walraven, P. J. M. Milligan et al., “Family history: an opportunity for early interventions and improved control of hypertension, obesity and diabetes,” Bulletin of the World Health Organization, vol. 79, no. 4, pp. 321–328, 2001. View at Google Scholar · View at Scopus
  26. R. P. P. Moreira, L. G. Gomes, B. B. Mendonca, and T. A. S. S. Bachega, “Impact of glucocorticoid receptor gene polymorphisms on the metabolic profile of adult patients with the classical form of 21-hydroxylase deficiency,” PLoS ONE, vol. 7, no. 9, Article ID e44893, 2012. View at Publisher · View at Google Scholar · View at Scopus