Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Using Next Generation Sequencing

The study on 97 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency found a 73.1% overall genotype-phenotype concordance using next-generation sequencing. Severe genotypes showed high correlation with expected clinical phenotypes, particularly the salt-wasting form, while milder genotypes had weaker correlations. The most common variant was In2G, present in 54.2% of alleles. The study highlights the limitations of NGS in detecting certain mutations and suggests complementing it with methods like MLPA for more accurate analysis. It emphasizes the importance of familial segregation analysis for precise genotyping and genetic counseling.