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  • Title: Pure XY gonadal dysgenesis and agenesis in monozygotic twins.
    Author: Chen HY, Huang HY, Chang TC, Lai CH, Soong YK.
    Journal: Fertil Steril; 2006 Apr; 85(4):1059.e9-11. PubMed ID: 16580399.
    Abstract:
    OBJECTIVE: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. DESIGN: Case report. SETTING: University tertiary hospital. PATIENT(S): Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. INTERVENTION(S): Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy. MAIN OUTCOME MEASURE(S): Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other. RESULT(S): Dysgerminoma and atrophic ovarian stromal and tubal structures. CONCLUSION(S): Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically.
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