Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis

Mixed gonadal dysgenesis (MGD) includes a group of heterogeneous conditions consisting of a dysgenetic testis with a streak gonad. MGD is probably due to a disturbance in testicular determination/differentiation. The objective of this study is to analyze the SRY gene in MGD patients. A molecular investigation was undertaken in sixteen patients with this disorder in an attempt to determine mutations in SRY through polymerase chain reaction, single strand conformational polymorphism and direct sequencing. Eleven patients showed 45,X/46,XY and five 46,XY karyotype. Mutations in SRY gene were shown to be absent in these patients. This study confirms the findings of other studies. The etiology of MGD is heterogeneous, and cytogenetics mosaicism typically seen in these patients may be a cause of this condition, although, the presence of mutations in testicular organizing genes downstream of SRY is still to rule out.