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 …

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 …