Pathogenesis of germ cell tumor development: Application of current knowledge in early diagnostics in patient with disorders of sex development

Patients with disorders of sex development with an increased risk for development of gonadal germ cell tumors mostly undergo prophylactic gonadectomy, that always leads to a need for hormonal substitution, and moreover, in some cases prevents fertility. The aim of the thesis was to better determine the risk for tumor development in relation to the functional and phenotypical characteristics in patients with complete form of androgen insensitivity syndrome (CAIS) and patients with 45,X/46,XY gonadal dysgenesis (GD). Hematoxiline and eosine staining and immunohistochemical detection of OCT3/4, TSPY and KITLG were used to assess 37 and 36 gonadal tissue samples of 19 CAIS patients, respectively, and 84 samples from 47 patients with 45,X/46,XY GD. The results were correlated with gonadal position and expected level of androgen receptor activity in the first group. The gained data were compared with level of virilization of external gentalia in the second group. Due to an unequal distribution in relation to the age in patients with CAIS, it was not possible to independently assess the influence of gonadal position (inguinal versus abdominal) on the histological gonadal changes. Expected residual androgen receptor activity has a positive effect on survival of general germ cell population but not on the..