Morphological features of female gonadal dysgenesis and karyotype in patients with Shereshevsky-Turner syndrome

Abstract

The aim of the work - the study of the morphological and immunophenotypic variants of the structure gonads in gonadal dysgenesis (GD) and karyotypic characteristics of patients with the Shereshevsky-Turner syndrome (SHTS). There were investigated the tissue samples of the removed gonads and ovaries from 16 SHTS patients with GD and 11 patients from the control group without SSHT whose ovaries had been removed due to parovarian cysts. The morphological study was executed with immunohistochemical typing of gonadal tissue with the detection of expression: Ki-67, Vimentin, Desmin, Inhibin A, ER ( «DAKO»), AR ( «SpringBioscience»). The karyotype was investigated by means of cytogenetic method, whereas the presence of the SRY-gene - with aid of PCR-reaction in blood lymphocytes. As a result, there were established morphological variants of GD in SHTS: streak-gonads (8 patients), GD with ovarian stroma (6 patients), GD with the formation of the gonadoblastoma (2 patients). At that in the blood lymphocytes of SHTS patients there were discovered following karyotypes: 45Х, 45X/46XY, 45X/46XX, 45, Х, t (4, 19) (р14, q13.3), 45, Х[5]/46, Xi(X)(q10)[20], 45, Х[31]/46, Xi(X)(q10)[19], 46Xpsui(Y)(q10)[6]/45, Х[3]/46 XY[20]. There were revealed statistically significant correlations between karyotypes of blood lymphocytes and immunophenotypes of cell of the genital cord stroma, fibroblasts and GD germinal cells. Markers directly relating to the survival of follicles: inhibin-a, AR, ER were of the greatest importance for the development of someone or other morphological variant. GD in patients with ovarian stroma were differed in the greatest expression of ER (p < 0.05). SRY-gene was detected in the 1 patient with the lack of Y-chromosome. In two patients gonadoblastoma was found in GD without the presence of the SRY-gene in blood lymphocytes. The data obtained testify to a variety of morphologic and immunophenotypic variants of GD in SHTS, which are not always correlated with the karyotype of blood lymphocytes ofpatients that may partly reflect a possible discrepancy between the karyotypeofblood lymphocytes and DG tissue due to gene mosaicism.

Keywords

Inhibin A, AR, ER / Shereshevsky-Turner syndrome / gonadal dysgenesis / streak-gonads / gonadoblastoma / Inhibin-a, AR, ER / karyotype / SRY-gene

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