Transcriptome profiling of human gonadal tissue in Differences of Sex Development

This study investigates the transcriptomic landscape of human gonadal tissues from individuals with Differences of Sex Development (DSD). Bulk RNA sequencing was performed on dysgenetic testes, testes, ovaries, and ovotestes obtained from pediatric and adult patients with 46,XY and 46,XX DSD phenotypes. Overall design: Bulk RNA-seq of gonadal tissues from 11 DSD patients (14 gonadal samples). Libraries were prepared from FFPE or fresh tissue and sequenced using paired-end Illumina technology. Gene-level read counts were generated using STAR.