Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study

Background: The prevalence of newborns with congenital adrenal hyperplasia (CAH) detected by neonatal screening is well-described, but data including patients diagnosed later in life are extremely limited. This study aimed to describe diagnostic trends for all patients with CAH in Denmark. Methods: A nationwide population-based registry study including medical record review. Findings: We identified 462 patients (290 females) with any form of CAH. The prevalence of CAH combined was 15.1 (95% confidence interval [CI]: 12.3–16.1) and 9.0 (CI: 7.6–10.4) per 100,000 newborn females and males. There was a prevalence of salt-wasting (SW), simple-virilizing (SV), and non-classic (NC) CAH due to 21-hydroxylase deficiency of: SW-CAH: 6.4 (CI: 5.3–7.6) and 5.6 (CI: 4.6–6.8); SV-CAH: 2.0 (CI: 1.4–2.8) and 1.6 (CI: 1.0–2.7); and NC-CAH: 5.5 (CI: 4.4–6.9) and 2.5 (CI: 1.7–3.7) per 100,000 newborn females and males, respectively. Diagnosis of NC-CAH increased significantly during the course of the study. There was a female preponderance for SV-CAH (ratio: 1.8) and NC-CAH (ratio: 3.2). Median age at diagnosis, females and males respectively: SW-CAH: 4 (interquartile range [IQR]: 0–11) and 14 (IQR: 8–24) days, SV-CAH: 3.1 (IQR: 1.2–6.6) and 4.8 (IQR: 3.2–6.9) years, and NC-CAH: 15.5 (IQR: 7.9–22.5) and 9.4 (IQR: 7.2–23.2) years. Interpretation: The combined prevalence of CAH was 15.1 and 9.0 per 100,000 newborn females and males, respectively. The female preponderance was primarily due to diagnosis of more females than males with NC-CAH. Funding: International Fund of Congenital Adrenal Hyperplasia, Health Research Fund of Central Denmark Region, Aase and Einar Danielsen Fund, and “Fonden til Lægevidenskabens Fremme”.