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Cited by 103Sexual Differentiation and DisordersAdrenal Hormones and DisordersHormonal and reproductive studies

Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Falhammar, Henrik, Filipsson Nyström, Helena, Wedell, Anna, Thorén, Marja·2011·European Journal of Endocrinology
DOI 10.1530/eje-10-0877
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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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Crossref · 10.1530/eje-10-0877

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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.

    “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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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
DOI
10.1530/eje-10-0877
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
  • 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 › 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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