Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis

Abstract

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