A case of a parthenogenetic 46XX/46XY chimera presenting ambiguous genitalia

摘要

Clinical findings of the patient. On examination, the patient showed cryptorchidism (left), hypospadias (right), and anterior scrotum (right). On operation, epididymes were identified macroscopically, but the tunica albuginea of the testis was absent bilaterally (left). Laparoscopy demonstrated that the vas deferens and gonadal veins flowed normally into the bilateral inguinal rings, and ovaries and a uterus were not detected (right). The precise position of the external urethral opening was normal. The ultrasound echoic level of both gonads was homogeneous. No other tissue-like structures with margins, suggestive of ovarian tissue, were detected. Testis biopsy of the patient (left). Compared to control tissue (right, age-matched normal testis), interstitial tissue of the patient was edematous and more prominent than the seminiferous tubules, which were tortuous and diverging. The seminiferous tubules appeared dysplastic, but detailed analysis demonstrated that they were not dysplastic. Bar, 100 μm