Complete testicular feminization syndrome with 47,XYY karyotype: adouble hit phenomenon

ABSTRACT

A phenotypic female patient 18 years old primary amenorrhea, absent uterus, male serum testosterone level, and 47, XYY karyotype is discussed. An ultrasound scanning of the pelvic organs revealed the absence of uterus, and a laparoscopy confirmed the ultrasound findings. Laparotomy and bilateral gonadectomy were also performed. Histopathological study of both gonads showed that each was formed of small testicular tubules lined by sertoli cells without spermatogenic elements. Neither vas nor epididymis were identified macroscopically or microscopically. These findings are consistent with the complete form of testicular feminization syndrome in association with 47, XYY karyotype