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Increased prevalence of fractures in congenital adrenal hyperplasia: A Swedish population-based national cohort study

Journal of Clinical Endocrinology and Metabolism Oct 09, 2021

Falhammar H, Frisén L, Hirschberg AL, et al. - Regular fracture risk assessment and glucocorticoid optimization is recommended in patients suffering from congenital adrenal hyperplasia (CAH).

  • This study involved patients with CAH (n=714, all 21-hydroxylase deficiency) vs controls matched for gender and year and place of birth (n=71,400).

  • More fractures occurred in CAH patients vs controls (23.5% vs 16.1%, OR 1.61), this was evident in both genders.

  • Patients born before the introduction of neonatal screening experienced significantly increased fractures, but this was not observed in those born afterwards.

  • Osteoporosis-related any major fracture was increased in all individuals with CAH.

  • SV phenotype and I172N genotype were associated with the highest prevalence of fractures.

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