A case reported with 46, XX testicular disorders of sexual development and its possible association with dysembryoplastic neuroepithelial tumour

The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence absence SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome a chromosomal anomaly with makeup female (46, XX) and phenotypic presentation male. Previously known as XX sex reversal, it now called 46, testicular disorders sexual development (DSD). Although rare, presents major anomaly, gene crossover proposed an underlying aetiology in most patients. We report case 25-year-old male who presented infertility was diagnosed DSD. He has previous history resected dysembryoplastic neuroepithelial tumour (DNT). differential diagnosis DSD possible association/coincidental finding DNT have been discussed. ---Continue