期刊
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
卷 -, 期 -, 页码 -出版社
ENDOCRINE SOC
DOI: 10.1210/clinem/dgad624
关键词
21-hydroxylase deficiency; trauma; fall; androgen concentrations
The prevalence of injuries and accidents is higher in females with congenital adrenal hyperplasia (CAH), especially in those with classical phenotype and born before the neonatal screening program.
Context It has been suggested that injuries and accidents are increased in females with congenital adrenal hyperplasia (CAH), but the prevalence is unclear.Objective To study the prevalence of injuries and accidents in females and males with CAH.Design, Setting, and Participants Patients with CAH (n = 714, all 21-hydroxylase deficiency) were compared with matched controls (n = 71 400). Data were derived by linking National Population-Based Registers.Main Outcome Measures Prevalence of injuries and accidents.Results Mean age was 29.8 +/- 18.4 years. Injuries were more prevalent in patients with CAH than in controls (relative risk, 1.34; 95% CI, 1.24-1.44), and this was found in both sexes (females: 1.43; 1.29-1.58; males: 1.25; 1.12-1.38). In the classical phenotype, the prevalence of injuries was higher, especially in females but not in the nonclassic phenotype. In the genotype groups, injuries were mainly increased in females. Head injuries were increased in all patients with CAH and in the different phenotypes and were mainly driven by females. More patients with CAH born before the introduction of neonatal screening had had an injury compared with controls (1.48; 1.35-1.62); this was seen in both sexes. In patients with CAH born after the introduction of screening, the prevalence of injuries was overall increased (1.20; 1.07-1.35), and in females with CAH but not in males. Accidents showed a similar pattern to injuries in all comparisons.Conclusion Patients with CAH had an increased prevalence of both injuries and accidents, especially in females and in those born before the neonatal screening program. Patients with nonclassic phenotype were hardly affected.
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