Background: Congenital adrenal hyperplasia (CAH) is a disease inherited by autosomal recessive manner and one of the most common congenital metabolic disorders. The incidence of CAH has been reported mainly through neonatal screening tests, mostly for 21-OHD. It is reported that 21-OHD occurs one in 15,000 people per year. However, there are few studies on all types of CAH incidence including 21-OHD. CAH is a rare disease, studies on large populations are needed to identify a significant number of cases. In Korea, CAH has been designated as a Rare Intractable Disease (RID) since 2008 and is being managed by implementing financial support in the country. We investigated the birth incidence, age at diagnosis, and mortality of CAH patients using this database.
Objective: In Korea, CAH patients are register in the Rare Intractable Disease (RID) program run by the government. The strength of the RID program is that predefined criteria are used for registering patients, which ensures diagnostic accuracy. We studied CAH patients identified through the Rare Intractable Disease (RID) registration code V115 (E25.0 in ICD-10, E250 in KCD) during the 10-year study period (20062015), and data on health care utilization of the patients were collected from the health insurance review and assessment(HIRA) database between 2004 and 2015.
Result: From 2004 to 2015, 506 CAH patients were born in Korea and CAH annual birth incidence was 9.6 / 100,000 live births (10,438: 1). There were 8.6 boys / 100,000 live births, 8.7 girls / 100,000 live births, and male / female sex ratio was 1.05: 1. The age at diagnosis ranged from 0 to 8 years. Within 3 months of age, total 83.8% were diagnosed, with 88.0% in boys and 79.1% in girls. As a result, 15% of all patients were not diagnosed through the neonatal screening test. The number of confirmed deaths was 9, and SMR was 1.8%. Patients diagnosed after 3 months had a statistically significant 4-fold higher risk of death (HR 4.06, CI 1.0715.70).
27 - 29 Sep 2018
European Society for Paediatric Endocrinology