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

Auer, Matthias; Paizoni, Luisa; Hofbauer, Lorenz C.; Rauner, Martina; Chen, Yiqing; Schmidt, Heinrich; Huebner, Angela; Bidlingmaier, Martin; Reisch, Nicole

doi:10.1016/j.jsbmb.2020.105734

Cited by 23 publications

(16 citation statements)

References 48 publications

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“…Since the use of dexamethasone was mainly limited to children aged 12-18 years, one might argue that patients in this age group may have completed linear growth and had more significant problems with complying to a three-daily glucocorticoid regime. However, it is important to highlight the impact of the type of GC used on other health outcomes, as hydrocortisone has been also shown to be associated with lower prevalence of metabolic comorbidities and better bone health in CAH in comparison to dexamethasone (20,25,26).…”

Section: Discussionmentioning

confidence: 99%

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

Bacila

Freeman

Daniel

et al. 2021

European Journal of Endocrinology

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Objective: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. Design: This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International-CAH Registry. Methods: Data was collected from 461 patients aged 0-18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 – 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement was analyzed from 4174 patient visits. Results: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0 – 14.5) mg/ m2/ day at age 1 - 8 years and the highest dose of 14.0 (11.6 - 17.4) mg/ m2/ day at age 12-18 years. Glucocorticoid doses decreased after 2010 in patients 0-8 years (p<0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. Conclusions: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.

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Section: Discussionmentioning

confidence: 99%

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

Bacila

Freeman

Daniel

et al. 2021

European Journal of Endocrinology

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“…Few studies have previously investigated fractures in patients with CAH; they were all quite small ( 12 , 18 , 24 , 25 , 28-30 , 32-35 ), and the reported fracture rate varied between 0% and 53.3% and the osteoporotic fracture rate varied from 0% to 20% ( 36 ). However, how fractures were identified differed between the studies, and many did not mention how fractures occurred.…”

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confidence: 99%

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Falhammar

Frisén

Hirschberg

et al. 2021

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Low bone mineral density has been reported in individuals with congenital adrenal hyperplasia (CAH), but the prevalence of fractures is unclear. Objective To study the prevalence of fractures in CAH. Design, Setting, and Participants: Patients with CAH (n=714, all 21-hydroxylase deficiency) were compared with controls matched for sex and year and place of birth (n=71,400). Data were derived by linking National Population-Based Registers. . Main Outcome Measures Number and type of fractures. Results Mean age was 29.8±18.4 years. Individuals with CAH had more fractures compared to controls (23.5% vs. 16.1%, OR 1.61, 95%CI 1.35-1.91), and this was found in both sexes (females: 19.6% vs. 13.3%, OR 1.57, 95%CI 1.23-2.02; males: 28.7% vs. 19.6%, OR 1.65, 95%CI 1.29-2.12). Fractures were significantly increased in patients born before the introduction of neonatal screening but not in those born afterwards. Any major fracture associated with osteoporosis (spine, forearm, hip or shoulder) was increased in all individuals with CAH (9.8% vs. 7.5%, OR 1.34, 95%CI 1.05-1.72). The highest prevalence of fractures was seen in SV phenotype and I172N genotype while non-classic phenotype and I2 splice genotype did not show increased prevalence. A transport accident as a car occupant and fall on the same level were more common in patients with CAH, both sexes, than in controls. Conclusions Patients with CAH had an increased prevalence of both any fracture and fractures associated with osteoporosis (both sexes) but not for patient neonatally screened. We conclude that fracture risk assessment and glucocorticoid optimization should be performed regularly.

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“…The use of prednisolone rather www.e-enm.org 145 than hydrocortisone and higher glucocorticoid doses may be related to low BMD [28]. However, Auer et al [29] reported sexdimorphic effects of adrenal androgen on bone. In men with CAH, adrenal androgen excess suppresses testicular androgen, resulting in detrimental effects on bone health.…”

Section: Discussionmentioning

confidence: 99%

Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study

et al. 2022

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Background: Previous studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents. We aimed to explore the epidemiology of CAH, as well as the risk of comorbidities and mortality, in a Korean nationwide case-control study.Methods: CAH patients (n=2,840) were included between 2002 and 2017 from the National Health Insurance Service database and the Rare Intractable Disease program. CAH patients were compared, at a 1:10 ratio, with age-, sex-, and index year-matched controls (n=28,400).Results: The point prevalence of CAH patients in Korea was 1 in 18,745 persons in 2017. The annual incidence rate declined between 2003 and 2017 from 3.25 to 0.41 per 100,000 persons. CAH patients were at elevated risk for cardiovascular disease (odds ratio [OR], 1.6; 95% confidence interval [CI], 1.4 to 1.9), stroke (OR, 1.7; 95% CI, 1.3 to 2.0), diabetes mellitus (OR, 2.8; 95% CI, 2.6 to 3.1), dyslipidemia (OR, 2.4; 95% CI, 2.2 to 2.6), and psychiatric disorders (OR, 1.5; 95% CI, 1.3 to 1.6). Fracture risk increased in CAH patients aged over 40 years (OR, 1.4; 95% CI, 1.1 to 1.7). CAH patients were at higher risk of mortality than controls (hazard ratio, 1.6; 95% CI, 1.3 to 2.0).Conclusion: Our nationwide study showed a recent decline in the incidence of CAH and an elevated risk for cardiovascular, metabolic, skeletal, and psychiatric disorders in CAH patients. Lifelong management for comorbidity risk is a crucial component of treating CAH patients.

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

Cited by 23 publications

References 48 publications

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study

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