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Cited by 33Sexual Differentiation and DisordersAdrenal Hormones and DisordersBone health and osteoporosis research

Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency

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Auer, Matthias K., Paizoni, Luisa, Hofbauer, Lorenz C., Rauner, Martina, Chen, Yiqing, Schmidt, Heinrich, Huebner, Angela, Bidlingmaier, Martin +1 more·2020·The Journal of Steroid Biochemistry and Molecular Biology
DOI 10.1016/j.jsbmb.2020.105734
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Abstract

CONTEXT: This study aimed to determine the role of modifiable predictors on bone health in congenital adrenal hyperplasia (CAH). DESIGN: Cross-sectional, single center study, including 97 patients (N = 42 men) with classic CAH due to 21-hydroxylase deficiency (N = 65 salt wasting, N = 32 simple virilizing). MAIN OUTCOME MEASURES: Treatment-related predictors of bone health. RESULTS: Average T scores (-0.9 ± 1.4 vs. -0.4 ± 1.4; p = 0.036) as well as Z scores (-1.0 ± 1.3 vs. -0.1 ± 1.4; p = 0.012) at the spine in patients with CAH were significantly lower in men than women. While osteoporosis was rare in women, it was documented in 9.1% of men with CAH. There was a significant positive correlation of Z scores at the spine with advancing age in women with CAH (R² = 0.178; p = 0.003). In multivariate analysis, the intake of conventional hydrocortisone (HC) instead of synthetic glucocorticoids was independently associated with a higher bone mineral density (BMD) at the hip region in both sexes. In women, there was a positive association with vitamin D concentrations. Interestingly, higher sodium levels were associated with a lower BMD independent of renin levels and fludrocortisone dosage. Neither in men nor in women, markers of androgen control were predictive for BMD at any site. Markers of bone turnover indicated low bone turnover. No pathological fractures were documented. CONCLUSIONS: Men with CAH are particularly prone to low bone density, while women seem to be relatively protected by androgen excess compared to the general female population. The use of HC instead of synthetic GCs for hormone replacement may translate into better bone health.

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  • In 84 pregnancies the mode of conception was reported, and 62/84 pregnancies were spontaneous.

    “In 84 pregnancies the mode of conception was reported, and 62/84 pregnancies were spontaneous (365).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [365]

    The Subjects section describes 97 patients studied for bone health, and the Patient characteristics section reports age and genotype, not pregnancy outcomes (page numbers unavailable). Searches for “84 pregnancies,” “62 spontaneous,” and mode of conception found no passage in our copy addressing the claim. (LLM, conf=0.77)

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  • The low interest in motherhood in women with SW CAH may be caused by effects of prenatal androgen exposure on gender role behavior, including reduced interest in infants, lack of a partner, dissatisfaction with genital appearance, decreased sexual satisfaction, and urogenital and sexual dysfunction as a result of corrective surgery.

    “This may be caused by the effects of prenatal androgen exposure on gender role behavior, including reduced interest in infants (592,660), the lack of a partner, dissatisfaction with genital appearance, decreased sexual satisfaction, and urogenital and sexual dysfunction as a result of corrective surgery (365).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [365]

    The Introduction and Conclusion discuss androgen excess in relation to bone health, not motherhood or sexual outcomes. Searches for reduced interest in infants, prenatal androgen effects on gender-role behavior, partner status, genital appearance, sexual satisfaction, and dysfunction after corrective surgery found no passage addressing the attributed claim. (LLM, conf=0.77)

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  • A large review of case reports of women with classic CAH included 159 pregnancies since 1999.

    “A large review of case reports of women with classic CAH included 159 pregnancies since 1999.”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [365]

    The Introduction discusses CAH and bone health, and the study reports outcomes for 55 women with CAH; neither addresses a review of pregnancy case reports. Searches for “159 pregnancies since 1999” and for pregnancy or fertility reviews found no passage supporting the claimed count or date. (LLM, conf=0.76)

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  • Optimizing mineralocorticoid treatment appears to improve fertility in SW and SV patients, but the exact mechanism remains unknown.

    “Second, optimizing mineralocorticoid treatment appears to improve fertility SW and SV patients (365,591,663), but the exact mechanism remains unknown.”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [365]

    The Methods (§2.3, page unavailable) say mineralocorticoid doses were evaluated, and the results (§3.3, page unavailable) report fludrocortisone doses and identify SW and SV patients. Neither passage addresses whether optimizing treatment improves fertility or whether its mechanism is unknown. Searches for fertility, reproduction, and fludrocortisone found no passage that does. (LLM, conf=0.76)

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  • Pregnancy outcome is good in women with CAH.

    “Pregnancy outcome is good in women with CAH (365).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [365]

    The Abstract and Conclusion (page numbers unavailable) address bone density and bone health in women with CAH, not pregnancy outcomes. Searches for pregnancy outcomes and related reproductive terms found no passage in our copy that addresses the claim. (LLM, conf=0.75)

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Authors
Auer, M. K., Paizoni, L., Hofbauer, L. C., Rauner, M., Chen, Y., Schmidt, H., Huebner, A., Bidlingmaier, M., & Reisch, N.
Affiliations
  • LMU Klinikum (DE)
  • Technische Universität Dresden (DE)
Corresponding author
Reisch, Nicole
ORCID
Venue
The Journal of Steroid Biochemistry and Molecular Biology
Publisher
Elsevier BV
Published
2020-11
Volume
204
Pages
105734
ISSN
0960-0760 (ISSN-L)
DOI
10.1016/j.jsbmb.2020.105734
OpenAlex
W3048360838
Cited by
33
References
58
Citations by year
2026: 3 · 2025: 8 · 2024: 3 · 2023: 3 · 2022: 6 · 2021: 10
FWCI
1.54
Type
journal article
Language
en
Open access
Licence
Locations
  • The Journal of Steroid Biochemistry and Molecular Biology (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
Funders
Deutsche Forschungsgemeinschaft
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, bone health, bone mineral density, osteoporosis, hyperandrogenism, glucocorticoid therapy, cortisol, synthetic glucocorticoids, vitamin D, sodium intake, sex differences, bone turnover markers, salt wasting
MeSH terms
Adrenal Hyperplasia, Congenital, Adult, Androgens, Female, Femur Neck, Glucocorticoids, Hip, Humans, Lumbar Vertebrae, Male, Bone Density, Young Adult

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