Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis

Authors

• Bahia Namavar-Jahromi, Assistant Professor, Department of Obstetrics and Gynecology, Shahid Faghihi Hospital Shiraz, Iran. Tel. +98 (711) 6271329. Fax. +98 (711) 2359847. E-mail: namavarb{at}sums.ac.ir
• Mitra Mohit, Department of Obstetrics and Gynecology, Shiraz University of Medical Sciences, Shiraz, Iran.
• Perikala V. Kumar, Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran.

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.

Article Type

Case Report

First Page

872

Last Page

874

Recommended Citation

Namavar-Jahromi, Bahia; Mohit, Mitra; and Kumar, Perikala V. (2005) "Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis," Saudi Medical Journal: Vol. 26: Iss. 5, Article 35.
DOI: https://doi.org/10.15537/1658-3175.2981