Primary amenorrhea and virilization in a true hermaphrodite with a rare dicentric Y chromosome

A 24-year-old woman was evaluated for primary amenorrhea and virilization. Karyotyping revealed a rare dicentric Y chromosome with complex mosaicism. Subsequent total abdominal hysterectomy/bilateral salpingo-oophorectomy demonstrated true hermaphroditism manifested by a right ovotestis, a left streak gonad, and Mullerian structures on the right despite the presence of testicular tissue. With the exception of short stature, Turner stigmata were not present despite the predominance of a 45,X cell line. The literature is reviewed.