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Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy

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Abstract

Summary

It is of great importance to investigate any potential detrimental effect on bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. This study demonstrated normal bone health in well-controlled patients. Additionally, glucocorticoid dose may play an important role in the mineral density of femoral neck region.

Purpose

To compare regional bone mineral densities (BMDs) and bone statuses of young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase) deficiency with a control group. The duration and dose of glucocorticoid therapy and relative skeletal muscle index (an indicator of sarcopenia) were also analyzed as parameters to predict bone health.

Methods

This case–control study included 23 patients (7 male and 16 female) and 20 controls (8 male and 12 female) matched by age range (18 to 31 years). Dual energy X-ray absorptiometry and phalangeal quantitative ultrasound (QUS) were used to estimate BMD and bone status, respectively.

Results

No difference was observed between patients and controls (of both sexes) in absolute values of BMD and Z-scores for the total body, lumbar spine, and femoral neck; or the bone status (estimated by phalangeal QUS). Multiple linear regression analysis demonstrated that relative skeletal muscle index independently correlated with BMD of the entire body (β: 0.67, P = 0.007), the lumbar spine (β: 0.73, P = 0.005), and the femoral neck (β: 0.67, P = 0.007). However, the dose of glucocorticoids (β: − 0.38, P = 0.028) independently correlated with BMD in the femoral neck region alone.

Conclusion

No signs of change in bone health were observed in patients with CAH when compared to the reference group. Additionally, a marker of sarcopenia was demonstrated to have a role in mineral density mechanisms in all analyzed bone sites. Only the femoral neck BMD seemed to be significantly dependent on glucocorticoid dose.

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Acknowledgements

The authors thank the participants who gave their time and effort to participate in the study.

Funding

This work was supported by the São Paulo Research Foundation (FAPESP-2011/23460–1 and 2012/16778–8) and the Brazilian Federal Agency for Support and Evaluation of Graduate Education (CAPES/PNPD — 88887.360763/2019–00).

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Authors and Affiliations

  1. Laboratory of Growth and Development (LabCreD), Center for Investigation in Pediatrics (CIPED), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), 126 Tessália Vieira de Camargo Street, Cidade Universitária Zeferino Vaz, Campinas, SP, 13083-887, Brazil

    Juliano Henrique Borges, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Júnior & Ezequiel Moreira Gonçalves

  2. Laboratory of Investigation in Metabolism and Diabetes (LIMED), FCM, UNICAMP, Campinas, SP, Brazil

    Daniel Minutti de Oliveira & Bruno Geloneze

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  1. Juliano Henrique Borges
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Contributions

JHB, GG, and EMG conceived and designed the analysis. DMO, SHVL, and EMG collected the data. All authors contributed to data analysis and interpretation. JHB, GG, and EMG drafted the manuscript, and all authors provided critical revisions. All authors gave final approval of the version of the manuscript submitted for publication.

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Correspondence to Juliano Henrique Borges.

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Ethics approval

The Research Ethics Committee of the State University of Campinas (UNICAMP) (number 768/2007) approved the procedures according to the Declaration of Helsinki for studies involving humans.

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All subjects provided informed consent.

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Borges, J.H., de Oliveira, D.M., de Lemos-Marini, S.H.V. et al. Normal bone health in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy. Osteoporos Int 33, 283–291 (2022). https://doi.org/10.1007/s00198-021-06097-w

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