Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density
Abstract
Glucocorticoids are essential in the treatment of patients with congenital adrenal hyperplasia (CAH). The opposite actions of glucocorticoids and androgens in bone mass achievement justify a study of bone mineral density (BMD) in these patients. We evaluated BMD in patients with CAH due to classic 21-hydroxylase (CYP21A2) deficiency and investigated the involvement of clinical and laboratory factors in the BMD. This study assessed the clinical and laboratory factors involved in BMD of 45 patients at the Pediatric Unit of Endocrinology, UNICAMP, who had been diagnosed as having classical CAH due to CYP21A2 deficiency including molecular characterization. The sample consisted of 28 females and 17 males; 23 salt-wasting (SW) and 22 simple virilizing (SV) cases, with average of 9.9 years (ranges, 5.1-16.3 years) when bone densitometry was performed. The DEXA method was used for calculating the areal BMD Z score in L2-L4. The variables were analyzed with reference to the BMD for chronological age (BMD/CA), height age (BMD/HA), and bone age (BMD/BA). The mean Z score for BMD/CA was 0.08 +/- 1.21 (-2.55 to 2.64); it was 0.29 +/- 1.33 (-2.01 to 4.00) for BMD/HA, and -0.90 +/- 1.24 (-3.41 to 1.92) for BMD/BA. The BMD/CA was significantly lower in females and in patients on treatment for a long period and of more advanced chronological age. Weight and body mass index (BMI) Z scores showed a positive correlation with advanced BA. The higher the weight and BMI Z scores, the higher the BMD/HA. The BMD/BA values were significantly higher in the group in which BA was closer to CA. The BMD/BA value was significantly lower when compared to the value obtained with height and chronological ages. Sex, duration of treatment, weight, BMI, and bone age have an effect on areal BMD in patients with CAH due to CYP21A2 deficiency, which may be underestimated when evaluated in relation to CA and HA.
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A few studies have reported normal or even high BMD, but most have shown low BMD at all or at least some sites in patients with CAH.
“A few studies have reported normal (704-709) or even high BMD (710), but most have shown low BMD at all or at least some sites (209,217,360,646,711-722).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [710]
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<b>Bone turnover and bone mineral density in patients with congenital adrenal hyperplasia</b>
Guo, C., Weetman, A. P., & Eastell, R. (1996) · Clinical Endocrinology · doi:10.1046/j.1365-2265.1996.00851.x · Cited by 79 · see citing works
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
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Long-Term Outcome of Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
Bachelot, A., Plu-Bureau, G., Thibaud, E., Laborde, K., Pinto, G., Samara, D., Nihoul-Fékété, C., Kuttenn, F., Polak, M., & Touraine, P. (2007) · Hormone Research in Paediatrics · doi:10.1159/000098017 · Cited by 106 · see citing works
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia
Falhammar, H., Filipsson Nyström, H., Wedell, A., Brismar, K., & Thorén, M. (2013) · European Journal of Endocrinology · doi:10.1530/eje-12-0865 · Cited by 82 · see citing works
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Rangaswamaiah, S., Gangathimmaiah, V., Nordenstrom, A., & Falhammar, H. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2020.00493 · Cited by 59 · see citing works
Bone mineral status in children with congenital adrenal hyperplasia
Fleischman, A., Ringelheim, J., Feldman, H. A., & Gordon, C. M. (2007) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2007.20.2.227 · Cited by 27 · see citing works
Bechtold, S., Beyerlein, A., Bonfig, W., Dalla Pozza, R., Putzker, S., Otto, R., Schmidt, H., & Schwarz, H. P. (2014) · Hormone Research in Paediatrics · doi:10.1159/000362759 · Cited by 7 · see citing works
- Authors
- de Almeida Freire, P. O., de Lemos-Marini, S. H. V., Maciel-Guerra, A. T., Morcillo, A. M., Matias Baptista, M. T., de Mello, M. P., & Guerra Jr., G.
- Affiliations
- Universidade Estadual de Campinas (UNICAMP) (BR)
- Venue
- Journal of Bone and Mineral Metabolism
- Published
- 2003-11-01
- Volume
- 21
- Issue
- 6
- Pages
- 396-401
- ISSN
- 0914-8779 (ISSN-L)
- 1435-5604
- OpenAlex
- W2056478738
- Cited by
- 47
- References
- 2
- Citations by year
- 2025: 2 · 2023: 3 · 2022: 1 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 2 · 2016: 2 · 2015: 1 · 2014: 4 · 2013: 3 · 2012: 4
- FWCI
- 0.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Bone and Mineral Metabolism (publishedVersion)
- PubMed (publishedVersion)
- UNIFESP Institutional Repository (Universidade Federal de São Paulo) (submittedVersion)
- Funders
- Universidade Estadual de Campinas
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Orthopedics and Sports Medicine › Bone health and osteoporosis research
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2, bone mineral density, glucocorticoid therapy, hyperandrogenism, bone age, salt-wasting CAH, simple virilizing CAH, body mass index, sex differences, pediatric patients, bone densitometry, treatment duration, bone accrual
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Age Factors, Child, Child, Preschool, Cross-Sectional Studies, Female, Glucocorticoids, Humans, Male, Puberty, Sex Factors, Steroid Hydroxylases, Steroid 21-Hydroxylase, Bone Density
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