Malignant Mixed Germ Cell Tumor and Contralateral Gonadoblastoma in Turner's Syndrome, 45, X0/46, XY Karyotype: A case report

Kang, Dong Wook; Kim, Jin Man; Suh, Kwang Sun; Song, Kyu Sang; Kang, Dae Yung

Abstract

Turner's syndrome results from complete or partial monosomy of the X chromosome and is characterized by hypogonadism or related other congenital anomalies in phenotypic females. In these patients, there are failure to develop normal secondary sex characteristics, amenorrhea, or short stature at puberty and the ovaries are reduced to atrophic fibrous strands devoid of ova and follicles(streak gonads). Individuals with this condition are particularly prone to the development of gonadoblastoma. For this reason, the gonads should be early removed and supplemental estrogen therapy given. We experienced a case of Turner's syndrome, 45, XO/46, XY karyotype in a 20-year-old phenotypic female complained an amenorrhea. On the exploratory laparotomy, the right gonadal mass is sevearly adhered to the adjacent organs and measures 8 x 5 x 5 cm in dimension and 75gm in weight and shows multiple foci of hemorrhage with necrosis. The left streak gonad measures 3.5 x 2 x 1.5 cm in dimension and shows multiple foci of calcification. Microscopically, the right gonadal mass reveals malignant mixed germ cell tumor, composed of endodermal sinus tumor, composed of endodermal sinus tumor with dysgerminoma and gonadoblastoma. The left streak gonad consists of mainly dense fibrous connective tissue and shows some foci of calcification associated with gonadoblastoma. On immunohistochemical and special stainings, the cytoplasm and hyalin droplets of the endodermal sinus tumor component reveal strong positivity to the a-fetoprotein and PAS. After removal of both gonads, the serum level of the a-fetoprotein is markedly down from 1742ng/ml to 2.6 ng/ml.