家族性无性细胞瘤伴46，XX单纯性腺发育不全。

Familial dysgerminoma associated with 46, XX pure gonadal dysgenesis.

作者信息

Namavar-Jahromi Bahia, Mohit Mitra, Kumar Perikala V

机构信息

Department of Obstetrics and Gynecology, Shiraz Univeristy of Medical Sciences, Iran.

出版信息

Saudi Med J. 2005 May;26(5):872-4.

PMID: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.

摘要

虽然单纯性腺发育不全（PGD）的发生通常是散发性的且非家族性的，但在此我们报告了3名患有46, XX PGD的姐妹，她们出生于近亲结婚家庭。对其家族谱系的回顾符合常染色体隐性遗传。令人惊讶的是，其中2名姐妹发生了卵巢肿瘤。两者均显示为伴有合体滋养层巨细胞的无性细胞瘤的病理结果。这2例是无明确Y染色体的PGD中肿瘤发生的例子。因此，对于46, XX PGD患者应考虑条索状性腺的恶性变。