Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis.
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.
Namavar-Jahromi
Bahia
B
Department of Obstetrics and Gynecology, Shiraz Univeristy of Medical Sciences, Iran. namavarb@sums.ac.ir
Mohit
Mitra
M
Kumar
Perikala V
PV
D000328:Adult; D025063:Chromosome Disorders; D003241:Consanguinity; D004407:Dysgerminoma / Q000150:complications* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D015726:Giant Cells / Q000473:pathology*; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications* / Q000235:genetics; D006801:Humans; D007492:Iran; D010051:Ovarian Neoplasms / Q000150:complications*; D014327:Trophoblasts / Q000473:pathology