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Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Abstract
Objective: Lifelong glucocorticoid therapy in patients with congenital adrenal hyperplasia (CAH) or the disease per se may result in increased cardiovascular risk. We therefore investigated cardiovascular and metabolic risk profiles in adult CAH males. Subjects and methods: We compared CAH males ( n =30), 19–67 years old, with age- and sex-matched controls ( n =32). Subgroups of different ages (<30 years or older) and CYP21A2 genotypes (null, I2splice, and I172N as the mildest mutation) were studied. Anthropometry, fat and lean mass measured by dual-energy X-ray absorptiometry, lipids, liver function tests, homocysteine, lipoprotein-(a), glucose and insulin during an oral glucose tolerance test (OGTT), urine albumin, adrenal hormones, and 24 h ambulatory blood pressure measurements were studied. Results: CAH males were shorter. Waist/hip ratio and fat mass were higher in older patients and the I172N group. Heart rate was faster in older patients, the I2splice, and I172N groups. Insulin levels were increased during OGTT in all patients and in the I172N group. γ-glutamyl transpeptidase was increased in older patients and in the I172N group. Testosterone was lower in older patients. Homocysteine was lower in younger patients, which may be cardioprotective. The cardiovascular risk seemed higher with hydrocortisone/cortisone acetate than prednisolone. Urinary epinephrine was lower in all groups of patients except in I172N. Conclusions: Indications of increased risk were found in CAH males ≥30 years old and in the I172N group. In contrast, younger CAH males did not differ from age-matched controls. This is likely to reflect a better management in recent years.
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“Increased abdominal adiposity, with a higher proportion of pro-inflammatory visceral adipose tissue compared to subcutaneous adipose tissue, was present in adolescents and young adults with CAH compared to age-, sex-and BMI-matched controls (673).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [673]
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Grouthier, V., Dulon, J., Bachelot, A., & Touraine, P. A. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.66140-8
Bachiller, B. R., Luque‐Ramírez, M., Rodríguez‐Jiménez, C., & Blanco, F. J. A. (2024) · Clínica e Investigación en Arteriosclerosis · doi:10.1016/j.arteri.2023.12.002
Bachiller, B. R., Luque‐Ramírez, M., Rodríguez‐Jiménez, C., & Blanco, F. J. A. (2024) · Clínica e Investigación en Arteriosclerosis (English Edition) · doi:10.1016/j.artere.2024.05.003
McCracken, C., Kaabi, O., Crawford, M., Gardner, M. D., Getahun, D. T., Goodman, M. G., Khorashad, B. S., Lash, T. L., Roblin, D. W., Vupputuri, S. X., et al. (2024) · Endocrine Practice · doi:10.1016/j.eprac.2024.09.005
Bulsari, K., & Falhammar, H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00076-5
Self-citationManagement of adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Grouthier, V., Dulon, J., Bachelot, A., & Touraine, P. A. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00132-1
Akyürek, N., Eklioğlu, B. S., Atabek, M. E., Alp, H., & Gün, H. (2025) · Cardiology in the Young · doi:10.1017/s1047951124036576
Fedai, N. K., Ünsal, İ. Ö., Hepşen, S., Uçan, B., Özbek, M., & Çakal, E. (2025) · Endocrine · doi:10.1007/s12020-025-04411-8
Zhang, Y., Yuan, X., Yang, X., & Chen, R. (2026) · Frontiers in Endocrinology · doi:10.3389/fendo.2026.1823828
Metadata
- Authors
- Falhammar, H., Filipsson Nyström, H., Wedell, A., & Thorén, M.
- Affiliations
- Karolinska University Hospital (SE)
- ORCID
- Falhammar, Henrik
- Venue
- European Journal of Endocrinology
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-02
- Volume
- 164
- Issue
- 2
- Pages
- 285-293
- ISSN
- 0804-4643 (ISSN-L)
- 1479-683X
- OpenAlex
- W2131502301
- Cited by
- 103
- References
- 35
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 7 · 2023: 7 · 2022: 10 · 2021: 8 · 2020: 5 · 2019: 8 · 2018: 8 · 2017: 4 · 2016: 5 · 2015: 4 · 2014: 6 · 2013: 6 · 2012: 10
- FWCI
- 2.60
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Endocrinology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal and reproductive studies
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, cardiovascular risk, metabolic profile, body composition, CYP21A2 mutations, glucocorticoid therapy, cortisol, prednisolone, insulin resistance, homocysteine, lipoprotein(a), ambulatory blood pressure, testosterone, urinary epinephrine, adult male
- MeSH terms
- Adrenal Hyperplasia, Congenital, Adult, Aged, Blood Glucose, Body Composition, Body Height, Cardiovascular Diseases, Genotype, Humans, Lipids, Male, Middle Aged, Renin, Risk, Steroid 21-Hydroxylase, Case-Control Studies
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