A Case of Chromosomal Disorders of Sex Development with Transverse Testicular Ectopia Mimicking Mixed Gonadal Dysgenesis

Transverse testicular ectopia (TTE) is a rare form of ectopic testis observed in boys with a normal 46, XY karyotype. TTE can be associated with persistent Müllerian duct syndrome or other genital anomalies such as hypospadias. However, TTE concomitant with both persistent Müllerian duct remnants and hypospadias has never been reported in the literature. A case of chromosomal disorders of sex development with TTE and persistent Müllerian duct remnants, which was initially presumed to represent mixed gonadal dysgenesis, is presented.