Recent Progress in Gonadal Dysgenesis

Molecular biology is revolutionizing reproductive medicine. The conceptual, diagnostic, and therapeutic advances in the management of individuals with gonadal dysgenesis have been driven largely by technical advances in molecular biology, cardiac imaging, assisted reproduction, and the production of recombinant proteins. Significant amount of basic information has been obtained which is relevant to somatic differentiation of the gonad, X-chromosome inactivation, and putative growth genes. Major technological advances in high-resolution and 3-D ultrasonography, magnetic resonance imaging (MRI), and operative laparoscopy provide new resources to assist in diagnosis and management of patients with gonadal dysgenesis. Techniques like, DNA amplification and fluorescence in situ hybridization (FISH) has added broader dimensions to detect somatic mosaicism and for the clarification of X-Y structural alterations. Patients who are at risk for aortic dissection are identified using serial echocardiography for aortic diameter. With recent advances, techniques of assisted reproduction using sibling and anonymous egg donors have made gestational motherhood a reality for carefully selected patients with gonadal dysgenesis.