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Cited by 83Sexual Differentiation and DisordersAdrenal Hormones and DisordersBone health and osteoporosis research

Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia

Falhammar, Henrik, Filipsson Nyström, Helena, Wedell, Anna, Brismar, Kerstin, Thorén, Marja·2013·European Journal of Endocrinology
DOI 10.1530/eje-12-0865
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Abstract

Objective: The aim of this study was to determine bone mineral density (BMD), markers of bone metabolism, fractures, and steroids reflecting hormonal control in adult males with congenital adrenal hyperplasia (CAH). Subjects, methods, and design: We compared CAH males with 21-hydroxylase deficiency (n=30), 19–67 years old, with age- and sex-matched controls (n=32). Subgroups of CYP21A2 genotypes, age, glucocorticoid preparation, poor control vs overtreatment, and early vs late (>36 months) diagnosis were studied. BMD measured by dual energy X-ray absorptiometry and markers of bone metabolism and androgens/17-hydroxyprogesterone levels were investigated. Results: All, including older (>30 years), CAH patients had lower BMD in all measured sites compared with control subjects. The null group demonstrated lower BMD in more locations than the other groups. Osteoporosis/osteopenia was present in 81% of CAH patients compared with 32% in controls (≥30 years). Fracture frequency was similar, osteocalcin was lower, and fewer patients than controls had vitamin D insufficiency. IGF1 was elevated in the milder genotypes. In patients, total body BMD was positively correlated to weight, BMI, total lean body mass, and triglycerides, and negatively to prolactin. Patients on prednisolone had lower BMD and osteocalcin levels than those on hydrocortisone/cortisone acetate. Patients with poor control had higher femoral neck BMD. There were no differences in BMD between patients with an early vs late diagnosis. Conclusions: CAH males have low BMD and bone formation markers. BMD should be monitored, adequate prophylaxis and treatment established, and glucocorticoid doses optimized to minimize the risk of future fractures.

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Crossref · 10.1530/eje-12-0865

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  • Studies over the past two decades show evidence of lower BMD in patients with 21OH deficiency as compared to controls, with the prevalence of low BMD (osteoporosis or osteopenia) ranging from 37 to 81%, with some studies reporting increased fracture rate.

    “Studies over the past two decades show evidence of lower BMD in patients with 21OH deficiency as compared to controls, with the prevalence of low BMD (osteoporosis or osteopenia) ranging from 37 to 81%, 94,[96][97][98] with some studies reporting increased fracture rate.96,99”

    From Congenital adrenal hyperplasia (2017) · cites this paper as [97]

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Authors
Falhammar, H., Filipsson Nyström, H., Wedell, A., Brismar, K., & Thorén, M.
Affiliations
Karolinska University Hospital (SE)
Corresponding author
Falhammar, Henrik
ORCID
Venue
European Journal of Endocrinology
Publisher
Oxford University Press (OUP)
Published
2013-03
Volume
168
Issue
3
Pages
331-341
ISSN
  • 0804-4643 (ISSN-L)
  • 1479-683X
DOI
10.1530/eje-12-0865
OpenAlex
W2133156740
Cited by
82
References
46
Citations by year
2026: 2 · 2025: 6 · 2024: 2 · 2023: 8 · 2022: 6 · 2021: 6 · 2020: 8 · 2019: 6 · 2018: 10 · 2017: 4 · 2016: 5 · 2015: 7 · 2014: 8 · 2013: 2
FWCI
2.18
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 › Orthopedics and Sports Medicine › Bone health and osteoporosis research
Keywords
congenital adrenal hyperplasia, 21-hydroxylase deficiency, bone mineral density, osteoporosis, fracture, bone turnover markers, osteocalcin, vitamin D insufficiency, insulin-like growth factor I, glucocorticoid therapy, prednisolone, cortisol, androgens, 17-hydroxyprogesterone, prolactin, lean body mass
MeSH terms
Adrenal Hyperplasia, Congenital, Adult, Aged, Bone and Bones, Glucocorticoids, Humans, Insulin-Like Growth Factor I, Male, Middle Aged, Mutation, Osteoporosis, Steroid 21-Hydroxylase, Sweden, Cohort Studies, Biomarkers, Bone Density, Osteocalcin, Prevalence, Hormone Replacement Therapy, Fractures, Bone, Young Adult, Genetic Association Studies

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