Gonadoblastomas in 5 Patients with 46,XY Gonadal Dysgenesis

Abstract

We describe five patients with 46,XY gonadal dysgenesis who developed gonadoblastomas, dysgerminomas, a mature teratoma, and a testicular intraepithelial neoplasia. The age of the patients was between 12.2 and 18.5 years. The external genitalia were normal female in two cases, in three they were intersexual. Four of our patients presented with slight retardation of puberty followed by stagnation. Most importantly the development of the breast (Tanner stage 2-4) did not correspond with pubic hair stage (Tanner stage 4). The patients can be classified as virilized phenotypical females. Serum testosterone was detectable in three, estradiol in two patients. None of the gonadoblastomas showed immunoreactivity with antibodies against steroid hormone receptors and against testosterone and estradiol, respectively. Probably the immature cells are able to produce steroid hormones. Only steroid-like cells with Leydig cell appearance showed positive cytoplasmatic immunostaining for testosterone in three patients. The findings in our patients underline that dysgenetic gonads must be removed as early as possible to prevent development of malignant tumors.

Tumors of dysgenetic gonads in Swyer syndrome

“…It is a germ cell neoplasm usually coexisting with gonadoblastoma. Other types of germ cell tumors found with gonadoblastoma are rare [1,3,4].…”

“…Gonadal tumors are seen in almost 30% of cases, and the prevalent type of tumor is gonadoblastoma. It has been hypothesized that chromosome Y contains a gonadoblastoma locus responsible for this benign tumor, which may also develop bilaterally and coexist with other neoplasms, such as dysgerminoma [3][4][5]. Gonadoblastoma is often hormonally active in secreting estrogens or androgens, which may mask gonadal dysgenesis and retard diagnosis [6,7].…”

“Too Young and Too High”: An Ovarian Germ-Cell Tumor and High Tumor Markers in an 18-Year-Old Female

“…In young women with suspected germ-cell tumors and primary amenorrhea, preoperatively karyotyping helps detection of patients with gonadal dysgenesis, and both ovaries can be removed with a diagnosis of gonadal dysgenesis. 6 The standard management of malignant ovarian germ-cell tumors is complete surgical excision. Conventionally, a vertical abdominal incision is recommended.…”

Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation

“…Gonadal tumors are seen in almost 30% of cases, and the prevalent type of tumor is gonadoblastoma. It has been hypothesized that the Y chromosome contains a gonadoblastoma locus responsible for this benign tumor, which may also develop bilaterally and coexist with other neoplasms such as dysgerminoma (7,(10)(11)(12). Gonadoblastoma is often hormonally active in secreting estrogens or androgens, which may mask gonadal dysgenesis and retard diagnosis (7,13,14).…”