ESPE Abstracts

Introduction: Genetic mutation in the CYP21A2 gene presents with various phenotypes in congenital adrenal hyperplasia (CAH). We conducted a cross-sectional study of the genotypic pattern and its corresponding phenotype at a tertiary care hospital of Eastern India.

Method: We screened all children aged between 0-18 years under follow-up who underwent genetic analysis for CYP21A2 mutations based on clinical or biochemical features of classic or non-classic CAH. Phenotypic findings, MLPA and Sangers sequencing reports were noted.

Results: A total of 24 variants were detected in 14 subjects. The most common genetic mutations noticed were c.293-13 A/C>G in intron 2, c.-113G>A (113bp SNP) in the promoter region and c.332_339delGAGACTAC (8 bp del) (p.Gly111Valfs) in children with salt wasting phenotype. While c.518T>A (p.lle173Asn in exon 4 and c.1069C>T (p.Arg357Trp) in exon 8 was seen in those with simple virilizing phenotype. Although, reported more commonly, only 1 child had a large deletion in CYP21A2 who presented in severe salt wasting and complete virilization in a genetic female.

Conclusion: 5 pathogenic variants were seen in more than 1 children in our cohort. There was no overlap in genotype between the salt wasting and simple virilizing types. The genetic information is pivotal in mapping the genetic pool of this region with consistent phenotypic correlation.