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Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview
Pavlos Fanis1, Nicos Skordis1,2,3, Marios Tomazou4
1Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus.
Pharmaceuticals (Basel, Switzerland)
|May 27, 2026
Summary
Congenital Adrenal Hyperplasia (CAH) shows varied epidemiology and care across the Mediterranean. Improving newborn screening, diagnostics, and treatment access is crucial to reduce disparities in managing this genetic disorder.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Congenital Adrenal Hyperplasia (CAH) comprises autosomal recessive disorders impacting adrenal steroidogenesis.
- Pathogenic variants in the CYP21A2 gene, causing 21-hydroxylase deficiency (21-OHD), are the most frequent cause.
- Significant variations in CAH epidemiology and management exist across the Mediterranean Basin due to genetic and healthcare disparities.
Purpose of the Study:
- To comprehensively review the epidemiology of CAH in Mediterranean countries.
- To outline current diagnostic approaches for CAH within the region.
- To examine treatment patterns and healthcare access for CAH patients in Mediterranean nations.
Main Methods:
- A systematic literature review was conducted using PubMed.
- Search terms combined disease-specific, geographic, and methodological keywords.
- Studies reporting on CAH epidemiology, diagnosis, or management in Mediterranean and adjacent regions were included.
Main Results:
- Data from 23 regions, encompassing over 8.7 million screened newborns, were analyzed.
- Classic CAH incidence ranged from 1:10,000 to 1:25,000 live births in countries with newborn screening.
- Significant heterogeneity was observed in diagnostic capabilities, genetic testing access, and availability of mineralocorticoids and modified-release glucocorticoids.
Conclusions:
- Substantial disparities in CAH epidemiology and clinical care persist across the Mediterranean.
- Genetic factors (founder effects, consanguinity) and healthcare system organization contribute to these differences.
- Expanding newborn screening programs and enhancing diagnostic and therapeutic accessibility are vital for equitable CAH management.
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