Congenital adrenal hyperplasia in the Nordic countries-a potential base for long-term outcome studies

Article Health Care Sciences & Services

Epidemiology and diagnostic trends of congenital adrenal

Agnethe Berglund et al.

Summary: This study aimed to describe diagnostic trends for all patients with CAH in Denmark. The prevalence of CAH combined was 15.1 and 9.0 per 100,000 newborn females and males, respectively. Diagnosis of NC-CAH increased significantly during the course of the study.

LANCET REGIONAL HEALTH-EUROPE (2023)

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Article Endocrinology & Metabolism

Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience

Marie Lind-Holst et al.

Summary: This study evaluated the screening of salt-wasting congenital adrenal hyperplasia (SW-CAH) in Denmark and compared the incidence and morbidity before and after the introduction of screening. The results showed that the screening algorithm effectively identified newborns with SW-CAH, and the screening did not lead to an increase in the number of newborns diagnosed with SW-CAH.

HORMONE RESEARCH IN PAEDIATRICS (2022)

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Article Endocrinology & Metabolism

Increased Prevalence of Fractures in Congenital Adrenal Hyperplasia: A Swedish Population-based National Cohort Study

Henrik Falhammar et al.

Summary: Patients with congenital adrenal hyperplasia (CAH) have an increased prevalence of fractures, especially those associated with osteoporosis. This highlights the need for regular assessment of fracture risk and optimization of treatment.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2022)

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Review Endocrinology & Metabolism

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management

Hedi L. Claahsen-van der Grinten et al.

Summary: Congenital adrenal hyperplasia is a group of autosomal recessive disorders affecting cortisol biosynthesis, with the most common form caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Recent developments include advancements in understanding steroidogenic pathways, improvements in diagnostic measurements, and exploration of alternative medications and treatments for CAH patients.

ENDOCRINE REVIEWS (2022)

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Article Genetics & Heredity