ArticleThe Lancet regional health. Europe2023
Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study.
Article in The Lancet regional health. Europe, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Newborn screening for congenital adrenal hyperplasia: a 3 years study embedded in 25 years of regional experience in Italy.Endocrine · 2026Article
- Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.Endocrine · 2026Article
- Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview.Pharmaceuticals (Basel, Switzerland) · 2026Review
- Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution.European journal of human genetics : EJHG · 2026Article
- The Use of Routine Laboratory 17-Hydroxyprogesterone for Identification of Cases of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia.Clinical endocrinology · 2026Article
- Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019.Journal of the Endocrine Society · 2025Article
- Cardiometabolic Aspects of Congenital Adrenal Hyperplasia.Endocrine reviews · 2025Review
- Epidemiology of disorders associated with tall stature in childhood: A 20-year birth cohort study.PloS one · 2025Article
- EndoCompass Project: Research Roadmap for Reproductive and Developmental Endocrinology.Hormone research in paediatrics · 2025Review
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant.Endocrinology, diabetes & metabolism case reports · 2024Article
- AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia.Molecular therapy. Methods & clinical development · 2024Article
- Discovery of CRN04894: A Novel Potent Selective MC2R Antagonist.ACS medicinal chemistry letters · 2024Article
- Congenital adrenal hyperplasia in the Nordic countries - a potential base for long-term outcome studies.The Lancet regional health. Europe · 2023Article
- Breakthroughs in Congenital Adrenal Hyperplasia Care - Hope on the Horizon.Indian journal of endocrinology and metabolismArticle
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Authors and funding
13 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
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".
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