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ea0090rc4.5 | Rapid Communications 4: Reproductive and Developmental Endocrinology | ECE2023

Women carrying CYP21A2 mutations display clinical findings and metabolic/hormonal profile analogous to women with non classical congenital adrenal hyperplasia and polycystic ovary syndrome

Livadas Sarantis , Goulis Dimitrios , eBelardinelli Elisabetta , Armeni Elena , Solmi Beatrice , Veneti Stavroula , Lambrinoudaki Irene , Cecchetti Carolina , Macut Djuro P. , Gambineri Alessandra

Heterozygotes carrying CYP21A2 gene mutations are found in 5-10% of the general population in Mediterranean countries. Accumulating data suggest a survival advantage of this population, despite the fact that carriers of two mutations suffer from either classical or non-classical congenital adrenal hyperplasia (NC-CAH), an entity with increased mortality. In an attempt to elaborate on this issue we evaluated females of reproductive age with CYP21A2 heterozygocity (HET). We have...

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Endocrine Abstracts

Women carrying CYP21A2 mutations display clinical findings and metabolic/hormonal profile analogous to women with non classical congenital adrenal hyperplasia and polycystic ovary syndrome

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