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ea0081ep8 | Adrenal and Cardiovascular Endocrinology | ECE2022

The spectrum of CYP21A2 copy number variations and gene mutations by MLPA in a pediatric Romanian population with 21-hydroxylase deficiency

Schipor Sorina , Nedelcu Ioana , Procopiuc Camelia , Braha Elena , Boboc Madalina , Brehar Andreea , Muresan Andrei , Dumitrica Alina , Popa Oana-Monica , Caragheorgheopol Andra , Manda Dana , Vladoiu Susana , Gherlan Iuliana

Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean&#177...

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Endocrine Abstracts

The spectrum of CYP21A2 copy number variations and gene mutations by MLPA in a pediatric Romanian population with 21-hydroxylase deficiency

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