A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.

46,XY complete gonadal dysgenesis (CGD) is a disorder of sexual development that can result from different mutations in genes associated with sex determination. Patients are phenotypically females, and the disease is often diagnosed in late adolescence because of delayed puberty. Here, we present the clinical and molecular data of a 46,XY female CGD patient with gonadoblastoma with dysgerminoma and incidentally found inherited thrombophilia.

[Investigation of cytokeratin and vimentin intermediate filaments in polycystic ovaries (PCOS) -- presence and specific structure of Balbiani body in primordial follicles].

Despite of the importance of cytoskeletal proteins for ovarian function and pathology, very few studies have addressed the presence and distribution of these proteins in polycystic ovaries. We investigated sections of human polycystic ovarian tissue for vimentin and a set of cytokeratins by epifluorescence. The studied proteins showed strong colocalization.

[Application of the RNA-based HPV test in the diagnostics of cervical epithelial changes].

Unlabelled: Our purpose was to investigate the diagnostic value of the RNA-based HPV test (NucliSENS EasyQtm HPV) which utilizes NASBA technology for determination of the expression of E6/E7 of five high-risk HPV types (16, 18, 31, 33 u 45).

Methods: Two hundred women aged 16 to 61 (mean 34.44) were prospectively studied.

[Congenital rhabdomyoma--prenatal diagnosis with three-dimensional ultrasound of two cases with different pregnancy outcome].

Congenital rhabdomyoma is the most common benign tumor of the fetal heart. Usually it occurs as a single or multiple lesions located within the ventricles and it is often associated with tuberous sclerosis after birth. We present two cases of congenital rhabdomyoma diagnosed in the third trimester with three-dimensional (3D) ultrasound.