Korean J Obstet Gynecol.  1999 Oct;42(10):2402-2405.

A Case of Mos 45, X/46, XY Mixed Gonadal Dysgenesis


We report a case of mos 45, X/46,XY mixed gonadal dysgenesis. An 22-year old female patient was admitted to our department for evaluation of primary amenorrhea. The chromosome karyotype of the patient was mos 45, X/46, XY. On the laparotomy there was an infantile uterus, fallopian tubes, and streak gonads. Bilateral gonadectomies were taken. Gonads showed tubular patterns and ovarian-like stroma histologically in left and right respectively so as to be diagnosed as mixed gonadal dysgenesis. The follow-up treatment has been combined estrogen-progesterone replacement therapy so far.


Mos 45; X/46; XY; Mixed gonadal dysgenesis
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