Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Department of Biostatistics, Korea University College of Medicine, Seoul, Korea.
Endocrinol Metab (Seoul). 2022 Feb;37(1):138-147. doi: 10.3803/EnM.2021.1328. Epub 2022 Feb 28.
Previous studies on the epidemiology and complications of congenital adrenal hyperplasia (CAH) were conducted in Western countries and in children/adolescents. We aimed to explore the epidemiology of CAH, as well as the risk of comorbidities and mortality, in a Korean nationwide case-control study.
CAH patients (n=2,840) were included between 2002 and 2017 from the National Health Insurance Service database and the Rare Intractable Disease program. CAH patients were compared, at a 1:10 ratio, with age-, sex-, and index year-matched controls (n=28,400).
The point prevalence of CAH patients in Korea was 1 in 18,745 persons in 2017. The annual incidence rate declined between 2003 and 2017 from 3.25 to 0.41 per 100,000 persons. CAH patients were at elevated risk for cardiovascular disease (odds ratio [OR], 1.6; 95% confidence interval [CI], 1.4 to 1.9), stroke (OR, 1.7; 95% CI, 1.3 to 2.0), diabetes mellitus (OR, 2.8; 95% CI, 2.6 to 3.1), dyslipidemia (OR, 2.4; 95% CI, 2.2 to 2.6), and psychiatric disorders (OR, 1.5; 95% CI, 1.3 to 1.6). Fracture risk increased in CAH patients aged over 40 years (OR, 1.4; 95% CI, 1.1 to 1.7). CAH patients were at higher risk of mortality than controls (hazard ratio, 1.6; 95% CI, 1.3 to 2.0).
Our nationwide study showed a recent decline in the incidence of CAH and an elevated risk for cardiovascular, metabolic, skeletal, and psychiatric disorders in CAH patients. Lifelong management for comorbidity risk is a crucial component of treating CAH patients.
先前有关先天性肾上腺皮质增生症（CAH）的流行病学和并发症的研究是在西方国家和儿童/青少年中进行的。我们旨在通过一项韩国全国病例对照研究来探讨 CAH 的流行病学以及合并症和死亡率的风险。
2002 年至 2017 年间，从国家健康保险服务数据库和罕见疑难病计划中纳入 CAH 患者（n=2840）。将 CAH 患者（n=2840）按年龄、性别和指数年份与 28400 名年龄匹配的对照者进行 1:10 配对比较。
2017 年韩国 CAH 患者的时点患病率为每 18745 人中 1 人。2003 年至 2017 年，年发病率从每 10 万人 3.25 例降至 0.41 例。CAH 患者患心血管疾病（比值比[OR]，1.6；95%置信区间[CI]，1.4 至 1.9）、中风（OR，1.7；95%CI，1.3 至 2.0）、糖尿病（OR，2.8；95%CI，2.6 至 3.1）、血脂异常（OR，2.4；95%CI，2.2 至 2.6）和精神障碍（OR，1.5；95%CI，1.3 至 1.6）的风险增加。40 岁以上 CAH 患者骨折风险增加（OR，1.4；95%CI，1.1 至 1.7）。CAH 患者的死亡率高于对照组（风险比，1.6；95%CI，1.3 至 2.0）。
我们的全国性研究表明，CAH 的发病率最近有所下降，CAH 患者患心血管、代谢、骨骼和精神障碍的风险增加。对合并症风险的终身管理是治疗 CAH 患者的重要组成部分。
