What is it about?
Determination the prevalence of the most commonly reported mutations among 21-OHD Egyptian patients and correlate genotype with phenotype.
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Perspectives
The described method diagnosed CAH in 80.8% of the studied patients. Good correlation between genotype and phenotype in salt wasting and simple virilizing forms is determined, whereas little concordance is seen in nonclassical one. Furthermore, studying the carrier frequency of 21-OHD among the normal population is of great importance.
Heba Hassan
National Research Centre
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This page is a summary of: Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt, Journal of Pediatric Endocrinology and Metabolism, July 2020, De Gruyter,
DOI: 10.1515/jpem-2019-0575.
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