Early-onset gonadoblastoma in a 13-month-old infant with 46, XY complete gonadal dysgenesis identified with prenatal testing: A case of chromosome 9P deletion

Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs).