PT  - JOURNAL ARTICLE
AU  - Bahia Namavar-Jahromi
AU  - Mitra Mohit
AU  - Perikala V. Kumar
TI  - Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis
DP  - 2005 May 01
TA  - Saudi Medical Journal
PG  - 872--874
VI  - 26
IP  - 5
4099  - http://smj.org.sa/content/26/5/872.short
4100  - http://smj.org.sa/content/26/5/872.full
SO  - Saudi Med J2005 May 01; 26
AB  - 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.