Studies in the Area of Biomarkers Reported from National and Kapodistrian University of Athens (Genetics of 21-oh Deficiency and Genotype-phenotype Correlation: Experience of the Hellenic National Referral Center).

A recent study conducted at the National and Kapodistrian University of Athens focused on identifying CYP21A2 gene variants in 500 Greek subjects with suspected 21-hydroxylase deficiency (21-OHD). The research aimed to differentiate between heterozygotes and cases with no pathogenic variants by analyzing hormonal assessments and genotypes. The study found that 27.4% of subjects tested had a genetic diagnosis, with most presenting the non-classic form of 21-OHD. While a potential biomarker was identified, no clear cut-off value could be established, emphasizing the importance of comprehensive genotyping for accurate diagnosis and genetic counseling. [Extracted from the article]