ESPE2022 Poster Category 1 Adrenals and HPA Axis (52 abstracts)
Prevalence and Incidence of Congenital Adrenal Hyperplasia in Denmark – a nationwide cohort study
Agnethe Berglund 1,2 , Marie Juul Ornstrup 3 , Marie Lind-Holst 4 , Marie Bækvad-Hansen 5 , Morten Duno 6 , Anders Juul 7,8 , Luise Borch 9 , Niels Jørgensen 7,8 , Kathrina M. Main 7,8 , Dorte Hansen 4 & Claus Højbjerg Gravholt 1,3
1Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark. 2Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. 3Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. 4Department of Pediatrics, Hans Christian Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark. 5Danish Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark. 6Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. 7Department of Growth and Reproduction and EDMaRC, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. 8Department of Clinical Medicine, Faculty of Health Sciences, Copenhagen University, Copenhagen, Denmark. 9Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark
Aim: Increased clinical attention toward less severe cases of congenital adrenal hyperplasia (CAH) may affect both incidence and prevalence. In this nationwide population-based cohort study, we estimate incidence, prevalence, and age at diagnosis of CAH according to subtype and sex.
Patients and Methods: Individuals registered with a diagnosis of CAH during 1977 to 2018 were identified in the Danish National Patient Registry, by genetic data and via the National neonatal screening program (n=3368). If registered at an endocrine, pediatric or gynecological department, medical records were reviewed to validate the CAH diagnosis (n=1876).
Results: Combined, 462 individuals (females: n=290) had CAH with the following distribution of subtypes: salt-wasting (SW): n=222 (103 males), simple virilizing (SV): n=59 (21 males), non-classic (NC): n=142 (34 males), other subtypes: n=24, and unknown subtype: n=15. The average incidence of CAH was 1.9 per 1,000,000 females and 1.2 per 1,000,000 males. Among newborns, the maximum average prevalence of females and males diagnosed with CAH was observed during 1967-2011 and 1967-2016, respectively, being 15 per 100,000 females and 9 per 100,000 males. During the same period, and stratified according to subtype, SW CAH occurred with a prevalence of 6.3 and 5.5 per 100,000 newborn females and males, respectively. SV CAH occurred with a prevalence of 2.0 and 1.1 per 100,000 newborn females and males respectively and NC CAH occurred with a prevalence of 5.6 and 1.8 per 100,000 newborn females and males, respectively. Females and males with SW-CAH were diagnosed at a median age of 6 days, IQR [1-10] and 10 days, IQR [8-20], respectively and with a significant decrease of three days among males (P<0.0001), after introduction of the neonatal CAH screening program. The median age at diagnosis of SV CAH was 5.4 years, IQR[2.5-9] and 5.14 years, IQR[4.4-6.9] in females and males, respectively (P=0.73) and for NC CAH 15.6 years, IQR[8.0-22.6] and 9.5 years, IQR[7.2-23.2] in females and males, respectively (P=0.26).
Conclusion: We identified the entire Danish cohort of individuals with CAH and estimated a total maximum average prevalence of 15 CAH females per 100,000 newborn females, which is higher than in previous studies, and 9 CAH males per 100,000 newborn males. Males with SV-CAH and NC-CAH suffer significantly from non-diagnosis compared to females. Individuals with NC-CAH are diagnosed late.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more