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.
D000328:Adult; D000568:Amenorrhea / Q000235:genetics* / Q000601:surgery; D002369:Castration; D012734:Disorders of Sex Development / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007044:Hysterectomy; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000150:complications / Q000235:genetics*; D014998:Y Chromosome