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  • Title: Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis.
    Author: Namavar-Jahromi B, Mohit M, Kumar PV.
    Journal: Saudi Med J; 2005 May; 26(5):872-4. PubMed ID: 15951888.
    Abstract:
    Although the occurrence of pure gonadal dysgenesis PGD is usually sporadic and nonfamilial, here we present 3 sisters with 46, XX PGD, who are born from a first cousin marriage. Review of their family pedigree is compatible with autosomal recessive inheritance. Surprisingly, 2 of these sisters developed ovarian tumors. Both showed the pathological result of dysgerminoma with syncytiotrophoblastic giant cells. These 2 cases are examples of tumorigenesis in PGD without an identifiable Y chromosome. Therefore, malignant degeneration of the streak gonads should be considered in the patients with 46, XX PGD.
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