Endocrinol Metab.  2022 Feb;37(1):138-147. 10.3803/EnM.2021.1328.

Epidemiology and Long-Term Adverse Outcomes in Korean Patients with Congenital Adrenal Hyperplasia: A Nationwide Study

• Kim JH
• Choi S
• Lee YA
• Lee J
• Kim SG

• KMID: 2527144
• DOI: http://doi.org/10.3803/EnM.2021.1328

Abstract

Background
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.
Methods
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).
Results
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).
Conclusion
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.

Keyword

Adrenal hyperplasia, congenital; Epidemiology; Long term adverse effects; Comorbidity; Mortality

Figure

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  Fig. 1 Annual incidence and number of patients with congenital adrenal hyperplasia according to age and the index year (2003 to 2017).

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  Fig. 2 Annual incidence per 10,000 live births and number of newborns/infants with congenital adrenal hyperplasia according to the index year (2002 to 2017).

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  Fig. 3 (A) Glucocorticoid and (B) mineralocorticoid regimens with 6 months or more duration within 1 year before the last visit.

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  Fig. 4 Survival probability of congenital adrenal hyperplasia (CAH) patients compared with age- and sex-matched controls. HR, hazard ratio; CI, confidence interval.

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