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Background: Congenital adrenal hyperplasia (CAH) belongs to a group of autosomal recessive disorders affecting adrenal corticosteroid synthesis, resulting in variable cortisol and, in most variants, aldosterone deficiency, and adrenal androgen overproduction
.
21-hydroxylase deficiency (21OHD), caused by mutations in the CYP21A2 gene, is the predominant variant of CAH, affecting 95% to 99% of all cases
Background: Congenital adrenal hyperplasia (CAH) belongs to a group of autosomal recessive disorders affecting adrenal corticosteroid synthesis, resulting in variable cortisol and, in most variants, aldosterone deficiency, and adrenal androgen overproduction
Glucocorticoid supplementation, the mainstay of treatment for CAH, was introduced in the 1950s, allowing patients in southwestern CAH to survive and reduce adrenal androgen production
CAH is associated with increased morbidity and mortality, and this increase may be largely related to either too much or too little glucocorticoid replacement
Objective: To study the prevalence of CAH fractures
DESIGN, SETTING, AND PARTICIPANTS: Patients with CAH disease (n = 714, all 21-hydroxylase deficient) were compared with controls (n = 71 400) matched for sex, year of birth, and location
MAIN OUTCOME MEASURES: Number and type of fractures
Results: The mean age was 29.
Table 1 Fracture rates in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency compared with age- and sex-matched controls (100 controls each)
Table 2 Fractures in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency were classified into different phenotypes and compared with age- and sex-matched controls (100 controls each)
Table 2 Fractures in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency were classified into different phenotypes and compared with age- and sex-matched controls (100 controls each)Table 3 Fractures in patients with congenital adrenal hyperplasia constitute the four most common CYP21A2 genotype groups compared to age- and sex-matched controls (100 controls each)
Table 3 Fractures in patients with congenital adrenal hyperplasia constitute the four most common CYP21A2 genotype groups compared to age- and sex-matched controls (100 controls each)CONCLUSIONS: The prevalence of any fracture and osteoporosis-related fractures was increased in CAH patients (both men and women), but not in neonatal screening
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We concluded that fracture risk assessment and glucocorticoid optimization should be performed regularly
CONCLUSIONS: The prevalence of any fracture and osteoporosis-related fractures was increased in CAH patients (both men and women), but not in neonatal screening
Original source: Falhammar H, Frisén L, Hirschberg AL, et al.
Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study .
J Clin Endocrinol Metab 2022 01 18;107(2) Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort StudyLeave a Comment here
