- About this Journal ·
- Abstracting and Indexing ·
- Advance Access ·
- Aims and Scope ·
- Annual Issues ·
- Article Processing Charges ·
- Articles in Press ·
- Author Guidelines ·
- Bibliographic Information ·
- Citations to this Journal ·
- Contact Information ·
- Editorial Board ·
- Editorial Workflow ·
- Free eTOC Alerts ·
- Publication Ethics ·
- Reviewers Acknowledgment ·
- Submit a Manuscript ·
- Subscription Information ·
- Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 250462, 8 pages
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.
- N. Krone and W. Arlt, “Genetics of congenital adrenal hyperplasia,” Best Practice and Research, vol. 23, no. 2, pp. 181–192, 2009.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- R. Hardy and M. S. Cooper, “Adrenal gland and bone,” Archives of Biochemistry and Biophysics, vol. 503, no. 1, pp. 137–145, 2010.
- 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.
- P. C. White, “Genetic diseases of steroid metabolism,” Vitamins and Hormones, vol. 49, pp. 131–195, 1994.
- 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.
- 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.
- M. I. New, “Extensive clinical experience: nonclassical 21-hydroxylase deficiency,” Journal of Clinical Endocrinology and Metabolism, vol. 91, no. 11, pp. 4205–4214, 2006.
- 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.
- 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.
- D. P. Merke and S. R. Bornstein, “Congenital adrenal hyperplasia,” The Lancet, vol. 365, no. 9477, pp. 2125–2136, 2005.
- 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.
- H. H. Lee, “CYP21 mutations and congenital adrenal hyperplasia,” Clinical Genetics, vol. 59, no. 5, pp. 293–301, 2001.
- E. Canalis, “Mechanisms of glucocorticoid action in bone,” Current Osteoporosis Reports, vol. 3, no. 3, pp. 98–102, 2005.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- D. Chen, M. Zhao, and G. R. Mundy, “Bone morphogenetic proteins,” Growth Factors, vol. 22, no. 4, pp. 233–241, 2004.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- W. J. Boyle, W. S. Simonet, and D. L. Lacey, “Osteoclast differentiation and activation,” Nature, vol. 423, no. 6937, pp. 337–342, 2003.
- E. Canalis, J. P. Bilezikian, A. Angeli, and A. Giustina, “Perspectives on glucocorticoid-induced osteoporosis,” Bone, vol. 34, no. 4, pp. 593–598, 2004.
- 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.
- 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.
- 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.
- 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.
- 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.
- T. Chen, “Nuclear receptor drug discovery,” Current Opinion in Chemical Biology, vol. 12, no. 4, pp. 418–426, 2008.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.