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

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

• Na JA
• Lee MJ
• Kim IH
• Kim SK
• Hur JY
• Saw HS
• Park YK
• cho SY
• Ju KS

Abstract

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.

Keyword

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

MeSH Terms

Amenorrhea
Fallopian Tubes
Female
Follow-Up Studies
Gonadal Dysgenesis, Mixed*
Gonads
Humans
Karyotype
Laparotomy
Uterus
Young Adult