Abstract
The aim of our work was to investigate the testicular differentiation mechanism in true hermaphrodites with karyotype XX in order to study the SRY gene and Y heterochromatic region (Yql2-Yqter) by PCR (Polymerase chain Reaction) in these patients and another gonadal patologies. A total of 10 patients were studied: 8 Trues Hermaphrodites (TH): 6 46,XX, 1 45.X/46,XY and 1 45,X/46XY/46,Xinv (Y); a female with Swyer's syndrome 46,XY and 1 Dysgenetic Male pseudohermaphrodite 46,Xr (Y). The SRY gene was present in TH X/XY, X/XY/Xinv (Y) and DMP Xr (Y); it was absent in 6 XXTH and XY female. The Y heterochromatic region was amplified in TH X/XY, X/XY/Xinv (Y) and XY female, and without amplification in THXX and DMP Xr (Y). These results suggest that XXTH could have arisen by an autosomic gene involved in sex reversal or the SRY gene could have been lost in the early stages of embrionary development. The absence of testes and female phenotype in the XY female could be explained by the absence of the SRY gene because of an Y chromosome deletion in the paternal gametogenesis. These data illustaste the usefulness of PCR in the molecular analysis of these patients.
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