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BioMed Research International
Volume 2013 (2013), Article ID 250462, 8 pages
http://dx.doi.org/10.1155/2013/250462
Review Article

Glucocorticoid-Induced Osteoporosis in Children with 21-Hydroxylase Deficiency

1Department of Biomedical Sciences and Human Oncology, University of Bari, Piazza G. Cesare 11, 70124 Bari, Italy
2Section of Human Anatomy and Histology, Department of SMB-NOS, University of Bari, 70124 Bari, Italy

Received 20 July 2012; Accepted 4 October 2012

Academic Editor: Leila Zanatta

Copyright © 2013 Annamaria Ventura 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. N. Krone and W. Arlt, “Genetics of congenital adrenal hyperplasia,” Best Practice and Research, vol. 23, no. 2, pp. 181–192, 2009. View at Publisher · View at Google Scholar · View at Scopus
  2. S. Nimkarn, K. Lin-Su, and M. I. New, “Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia,” Pediatric Clinics of North America, vol. 58, pp. 1281–1300, 2011.
  3. G. Mazziotti, A. Angeli, J. P. Bilezikian, E. Canalis, and A. Giustina, “Glucocorticoid-induced osteoporosis: an update,” Trends in Endocrinology and Metabolism, vol. 17, no. 4, pp. 144–149, 2006. View at Publisher · View at Google Scholar · View at Scopus
  4. D. Den Uyl, I. E. M. Bultink, and W. F. Lems, “Advances in glucocorticoid-induced osteoporosis,” Current Rheumatology Reports, vol. 13, no. 3, pp. 233–240, 2011. View at Publisher · View at Google Scholar · View at Scopus
  5. E. Canalis, G. Mazziotti, A. Giustina, and J. P. Bilezikian, “Glucocorticoid-induced osteoporosis: pathophysiology and therapy,” Osteoporosis International, vol. 18, no. 10, pp. 1319–1328, 2007. View at Publisher · View at Google Scholar · View at Scopus
  6. L.-C. L. Tsai and J. A. Beavo, “The roles of cyclic nucleotide phosphodiesterases (PDEs) in steroidogenesis,” Current Opinion in Pharmacology, vol. 11, no. 6, pp. 670–675, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. M. F. Faienza and L. Cavallo, “17β-hydroxysteroid dehydrogenase type 3 deficiency: diagnosis, phenotypic variability and molecular findings,” in Steroids-Basic Science, H. Abduljabbar, Ed., pp. 119–140, InTech, 2012. View at Publisher · View at Google Scholar
  8. R. Hardy and M. S. Cooper, “Adrenal gland and bone,” Archives of Biochemistry and Biophysics, vol. 503, no. 1, pp. 137–145, 2010. View at Publisher · View at Google Scholar · View at Scopus
  9. A. H. Payne and D. B. Hales, “Overview of steroidogenic enzymes in the pathway from cholesterol to active steroid hormones,” Endocrine Reviews, vol. 25, no. 6, pp. 947–970, 2004. View at Publisher · View at Google Scholar · View at Scopus
  10. P. C. White, “Genetic diseases of steroid metabolism,” Vitamins and Hormones, vol. 49, pp. 131–195, 1994. View at Publisher · View at Google Scholar · View at Scopus
  11. T. Yanase, E. R. Simpson, and M. R. Waterman, “17α-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition,” Endocrine Reviews, vol. 12, no. 1, pp. 91–108, 1991. View at Scopus
  12. P. C. White and P. W. Speiser, “Congenital adrenal hyperplasia due to 21-hydroxylase deficiency,” Endocrine Reviews, vol. 21, no. 3, pp. 245–291, 2000. View at Publisher · View at Google Scholar · View at Scopus
  13. M. I. New, “Extensive clinical experience: nonclassical 21-hydroxylase deficiency,” Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 11, pp. 4205–4214, 2006. View at Publisher · View at Google Scholar · View at Scopus
  14. S. Laji, S. Clauin, T. Robins et al., “Novel mutations in CYP21 detected in individuals with hyperandrogenism,” Journal of Clinical Endocrinology and Metabolism, vol. 87, no. 6, pp. 2824–2829, 2002. View at Publisher · View at Google Scholar · View at Scopus
  15. A. Bachelot, Z. Chakhtoura, D. Samara-Boustani, J. Dulon, P. Touraine, and M. Polak, “Bone health should be an important concern in the care of patients affected by 21 hydroxylase deficiency,” International Journal of Pediatric Endocrinology, vol. 2010, Article ID 326275, 2010. View at Publisher · View at Google Scholar
  16. 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
  17. P. W. Speiser, R. Azziz, L. S. Baskin, et al., “A summary of the endocrine society clinical practice guidelines on congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency,” International Journal of Pediatric Endocrinology, vol. 2010, Article ID 494173, 2010.
  18. H. H. Lee, “CYP21 mutations and congenital adrenal hyperplasia,” Clinical Genetics, vol. 59, no. 5, pp. 293–301, 2001. View at Publisher · View at Google Scholar · View at Scopus
  19. E. Canalis, “Mechanisms of glucocorticoid action in bone,” Current Osteoporosis Reports, vol. 3, no. 3, pp. 98–102, 2005. View at Scopus
  20. C. A. O'Brien, D. Jia, L. I. Plotkin et al., “Glucocorticoids act directly on osteoblasts and osteocytes to induce their apoptosis and reduce bone formation and strength,” Endocrinology, vol. 145, no. 4, pp. 1835–1841, 2004. View at Publisher · View at Google Scholar · View at Scopus
  21. J. Deng, K. Hua, E. J. Caveney, N. Takahashi, and J. B. Harp, “Protein inhibitor of activated STAT3 inhibits adipogenic gene expression,” Biochemical and Biophysical Research Communications, vol. 339, no. 3, pp. 923–931, 2006. View at Publisher · View at Google Scholar · View at Scopus
  22. Y. Fu, N. Luo, and M. F. Lopes-Virella, “Oxidized LDL induces the expression of ALBP/aP2 mRNA and protein in human THP-1 macrophages,” Journal of Lipid Research, vol. 41, no. 12, pp. 2017–2023, 2000. View at Scopus
  23. D. A. Glass, P. Bialek, J. D. Ahn et al., “Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation,” Developmental Cell, vol. 8, no. 5, pp. 751–764, 2005. View at Publisher · View at Google Scholar · View at Scopus
  24. S. L. Holmen, C. R. Zylstra, A. Mukherjee et al., “Essential role of β-catenin in postnatal bone acquisition,” Journal of Biological Chemistry, vol. 280, no. 22, pp. 21162–21168, 2005. View at Publisher · View at Google Scholar · View at Scopus
  25. C. A. Luppen, E. Smith, L. Spevak, A. L. Boskey, and B. Frenkel, “Bone morphogenetic protein-2 restores mineralization in glucocorticoid-inhibited MC3T3-E1 osteoblast cultures,” Journal of Bone and Mineral Research, vol. 18, no. 7, pp. 1186–1197, 2003. View at Publisher · View at Google Scholar · View at Scopus
  26. D. Chen, M. Zhao, and G. R. Mundy, “Bone morphogenetic proteins,” Growth Factors, vol. 22, no. 4, pp. 233–241, 2004. View at Publisher · View at Google Scholar · View at Scopus
  27. A. M. Delany, B. Y. Gabbitas, and E. Canalis, “Cortisol downregulates osteoblast 1/4 (I) procollagen mRNA by transcriptional and posttranscriptional mechanisms,” Journal of Cellular Biochemistry, vol. 57, no. 3, pp. 488–494, 1995. View at Publisher · View at Google Scholar · View at Scopus
  28. P. E. Stromstedt, L. Poellinger, J. A. Gustafsson, and J. Carlstedt-Duke, “The glucocorticoid receptor binds to a sequence overlapping the TATA box of the human osteocalcin promoter: a potential mechanism for negative regulation,” Molecular and Cellular Biology, vol. 11, no. 6, pp. 3379–3383, 1991. View at Scopus
  29. A. A. J. Heinrichs, C. Banerjee, R. Bortell et al., “Identification and characterization of two proximal elements in the rat osteocalcin gene promoter that may confer species-specific regulation,” Journal of Cellular Biochemistry, vol. 53, no. 3, pp. 240–250, 1993. View at Publisher · View at Google Scholar · View at Scopus
  30. P. Moutsatsou, E. Kassi, and A. G. Papavassiliou, “Glucocorticoid receptor signaling in bone cells,” Trends in Molecular Medicine, vol. 18, no. 6, pp. 348–359, 2012. View at Publisher · View at Google Scholar · View at Scopus
  31. A. G. Pantschenko, W. Zhang, M. Nahounou et al., “Effect of osteoblast-targeted expression of Bcl-2 in bone: differential response in male and female mice,” Journal of Bone and Mineral Research, vol. 20, no. 8, pp. 1414–1429, 2005. View at Publisher · View at Google Scholar · View at Scopus
  32. B. Espina, M. Liang, R. G. G. Russell, and P. A. Hulley, “Regulation of Bim in glucocorticoid-mediated osteoblast apoptosis,” Journal of Cellular Physiology, vol. 215, no. 2, pp. 488–496, 2008. View at Publisher · View at Google Scholar · View at Scopus
  33. N. E. Lane, W. Yao, M. Balooch et al., “Glucocorticoid-treated mice have localized changes in trabecular bone material properties and osteocyte lacunar size that are not observed in placebo-treated or estrogen-deficient mice,” Journal of Bone and Mineral Research, vol. 21, no. 3, pp. 466–476, 2006. View at Publisher · View at Google Scholar · View at Scopus
  34. Y. Liu, A. Porta, X. Peng et al., “Prevention of glucocorticoid-induced apoptosis in osteocytes and osteoblasts by calbindin-D28k,” Journal of Bone and Mineral Research, vol. 19, no. 3, pp. 479–490, 2004. View at Publisher · View at Google Scholar · View at Scopus
  35. H. M. Massey and A. M. Flanagan, “Human osteoclasts derive from CD14-positive monocytes,” British Journal of Haematology, vol. 106, no. 1, pp. 167–170, 1999. View at Publisher · View at Google Scholar · View at Scopus
  36. W. J. Boyle, W. S. Simonet, and D. L. Lacey, “Osteoclast differentiation and activation,” Nature, vol. 423, no. 6937, pp. 337–342, 2003. View at Publisher · View at Google Scholar · View at Scopus
  37. E. Canalis, J. P. Bilezikian, A. Angeli, and A. Giustina, “Perspectives on glucocorticoid-induced osteoporosis,” Bone, vol. 34, no. 4, pp. 593–598, 2004. View at Publisher · View at Google Scholar · View at Scopus
  38. C. D. Richards, C. Langdon, P. Deschamps, D. Pennica, and S. G. Shaughnessy, “Stimulation of osteoclast differentiation in vitro by mouse oncostatin M, leukaemia inhibitory factor, cardiotrophin-1 and interleukin 6: synergy with dexamethasone,” Cytokine, vol. 12, no. 6, pp. 613–621, 2000. View at Publisher · View at Google Scholar · View at Scopus
  39. A. Takuma, T. Kaneda, T. Sato, S. Ninomiya, M. Kumegawa, and Y. Hakeda, “Dexamethasone enhances osteoclast formation synergistically with transforming growth factor-beta by stimulating the priming of osteoclast progenitors for differentiation into osteoclasts,” Journal of Biological Chemistry, vol. 278, no. 45, pp. 44667–44674, 2003. View at Publisher · View at Google Scholar · View at Scopus
  40. E. Smith, R. A. Redman, C. R. Logg, G. A. Coetzee, N. Kasahara, and B. Frenkel, “Glucocorticoids inhibit developmental stage-specific osteoblast cell cycle: dissociation of cyclin A-cyclin-dependent kinase 2 from E2F4-p130 complexes,” Journal of Biological Chemistry, vol. 275, no. 26, pp. 19992–20001, 2000. View at Publisher · View at Google Scholar · View at Scopus
  41. K. L. Gross and J. A. Cidlowski, “Tissue-specific glucocorticoid action: a family affair,” Trends in Endocrinology and Metabolism, vol. 19, no. 9, pp. 331–339, 2008. View at Publisher · View at Google Scholar · View at Scopus
  42. B. M. Necela and J. A. Cidlowski, “Mechanisms of glucocorticoid receptor action in noninflammatory and inflammatory cells,” Proceedings of the American Thoracic Society, vol. 1, no. 3, pp. 239–246, 2004. View at Scopus
  43. T. Chen, “Nuclear receptor drug discovery,” Current Opinion in Chemical Biology, vol. 12, no. 4, pp. 418–426, 2008. View at Publisher · View at Google Scholar · View at Scopus
  44. O. Kassel and P. Herrlich, “Crosstalk between the glucocorticoid receptor and other transcription factors: molecular aspects,” Molecular and Cellular Endocrinology, vol. 275, no. 1-2, pp. 13–29, 2007. View at Publisher · View at Google Scholar · View at Scopus
  45. K. De Bosscher, W. V. Berghe, I. M. E. Beck et al., “A fully dissociated compound of plant origin for inflammatory gene repression,” Proceedings of the National Academy of Sciences of the United States of America, vol. 102, no. 44, pp. 15827–15832, 2005. View at Publisher · View at Google Scholar · View at Scopus
  46. S. Thiele, N. Ziegler, E. Tsourdi, et al., “Selective glucocorticoid receptor modulation maintains bone mineral density in mice,” Journal of Bone and Mineral Research, vol. 27, no. 11, pp. 2242–2250, 2012.
  47. O. Arisaka, M. Hoshi, S. Kanazawa et al., “Effect of adrenal androgen and estrogen on bone maturation and bone mineral density,” Metabolism, vol. 50, no. 4, pp. 377–379, 2001. View at Publisher · View at Google Scholar · View at Scopus
  48. F. J. Cameron, B. Kaymakci, E. A. Byrt, P. R. Ebeling, G. L. Warne, and J. D. Wark, “Bone mineral density and body composition in congenital adrenal hyperplasia,” Journal of Clinical Endocrinology and Metabolism, vol. 80, no. 7, pp. 2238–2243, 1995. View at Scopus
  49. J. Jääskeläinen and R. Voutilainen, “Bone mineral density in relation to glucocorticoid substitution therapy in adult patients with 21-hydroxylase deficiency,” Clinical Endocrinology, vol. 45, no. 6, pp. 707–713, 1996. View at Scopus
  50. R. Girgis and J. S. D. Winter, “The effects of glucocorticoid replacement therapy on growth, bone mineral density, and bone turnover markers in children with congenital adrenal hyperplasia,” Journal of Clinical Endocrinology and Metabolism, vol. 82, no. 12, pp. 3926–3929, 1997. View at Scopus
  51. K. Hagenfeldt, E. M. Ritzen, H. Ringertz, J. Helleday, and K. Carlstrom, “Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy,” European Journal of Endocrinology, vol. 143, no. 5, pp. 667–671, 2000. View at Scopus
  52. C. Paganini, G. Radetti, C. Livieri, V. Braga, D. Migliavacca, and S. Adami, “Height, bone mineral density and bone markers in congenital adrenal hyperplasia,” Hormone Research, vol. 54, no. 4, pp. 164–168, 2000. View at Scopus
  53. P. O. De Almeida Freire, S. H. Valente De Lemos-Marini, A. Trevas Maciel-Guerra et al., “Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density,” Journal of Bone and Mineral Metabolism, vol. 21, no. 6, pp. 396–401, 2003. View at Publisher · View at Google Scholar · View at Scopus
  54. J. A. King, A. B. Wisniewski, B. J. Bankowski, K. A. Carson, H. A. Zacur, and C. J. Migeon, “Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia,” Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 3, pp. 865–869, 2006. View at Publisher · View at Google Scholar · View at Scopus
  55. M. Sciannamblo, G. Russo, D. Cuccato, G. Chiumello, and S. Mora, “Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency,” Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 11, pp. 4453–4458, 2006. View at Publisher · View at Google Scholar · View at Scopus
  56. H. Falhammar, H. Filipsson, G. Holmdahl et al., “Fractures and bone mineral density in adult women with 21-hydroxylase deficiency,” Journal of Clinical Endocrinology and Metabolism, vol. 92, no. 12, pp. 4643–4649, 2007. View at Publisher · View at Google Scholar · View at Scopus
  57. A. Zimmermann, P. G. Sido, E. Schulze et al., “Bone mineral density and bone turnover in Romanian children and young adults with classical 21-hydroxylase deficiency are influenced by glucocorticoid replacement therapy,” Clinical Endocrinology, vol. 71, no. 4, pp. 477–484, 2009. View at Publisher · View at Google Scholar · View at Scopus
  58. C. Y. Guo, A. P. Weetman, and R. Eastell, “Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia,” Clinical Endocrinology, vol. 45, no. 5, pp. 535–541, 1996. View at Scopus
  59. S. Mora, F. Saggion, G. Russo et al., “Bone density in young patients with congenital adrenal hyperplasia,” Bone, vol. 18, no. 4, pp. 337–340, 1996. View at Publisher · View at Google Scholar · View at Scopus
  60. M. Gussinyé, A. Carrascosa, N. Potau et al., “Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia,” Pediatrics, vol. 100, no. 4, pp. 671–674, 1997. View at Publisher · View at Google Scholar · View at Scopus
  61. N. M. M. L. Stikkelbroeck, W. J. G. Oyen, G. J. Van Der Wilt, A. R. M. M. Hermus, and B. J. Otten, “Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia,” Journal of Clinical Endocrinology and Metabolism, vol. 88, no. 3, pp. 1036–1042, 2003. View at Publisher · View at Google Scholar · View at Scopus
  62. P. Christiansen, C. Mølgaard, and J. Müller, “Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency,” Hormone Research, vol. 61, no. 3, pp. 133–136, 2004. View at Publisher · View at Google Scholar · View at Scopus
  63. L. G. Raisz and B. E. Kream, “Regulation of bone formation. I,” New England Journal of Medicine, vol. 309, no. 1, pp. 29–35, 1983. View at Scopus
  64. T. J. Hahn, L. R. Halstead, and D. T. Baran, “Effects of short term glucocorticoid administration on intestinal calcium absorption and circulating vitamin D metabolite concentrations in man,” Journal of Clinical Endocrinology and Metabolism, vol. 52, no. 1, pp. 111–115, 1981. View at Scopus
  65. K. J. Loechner, S. Patel, L. Fordham, and J. T. McLaughlin, “Decreased bone mineral density and vertebral compression fractures in a young adult male with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH): Is CAH an unrecognized population at risk for glucocorticoid-induced osteoporosis?” Journal of Pediatric Endocrinology and Metabolism, vol. 23, no. 1-2, pp. 179–187, 2010. View at Scopus
  66. M. F. Faienza, G. Brunetti, S. Colucci et al., “Osteoclastogenesis in children with 21-hydroxylase deficiency on long-term glucocorticoid therapy: the role of receptor activator of nuclear factor-κB ligand/osteoprotegerin imbalance,” Journal of Clinical Endocrinology and Metabolism, vol. 94, no. 7, pp. 2269–2276, 2009. View at Publisher · View at Google Scholar · View at Scopus
  67. G. Brunetti, M. F. Faienza, L. Piacente, et al., “High dickkopf-1 levels in sera and leukocytes from children with 21-hydroxylase deficiency on chronic glucocorticoid treatment,” American Journal of Physiology Endocrinology and Metabolism. In press.