RT Journal Article
SR Electronic
T1 Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 872
OP 874
VO 26
IS 5
A1 Namavar-Jahromi, Bahia
A1 Mohit, Mitra
A1 Kumar, Perikala V.
YR 2005
UL http://smj.org.sa/content/26/5/872.abstract
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.