Fallas reproductivas por mutaciones genicas

Most genes for the major genes involved in gonadotropin and steroid action have been identified. But there are continued discoveries of isoforms coded by separate genes with preferential functions and different patterns of tissue expression. Additionally, new factors involved in hormone synthesis and hormone action are continuously being described. Further knowledge of the specific function and location of isoforms allows the development of specific pharmacologic inhibitors or activators of these isoforms and represents an exciting, developing therapeutic field. While knockout mutations of these proteins are relatively rare in the larger population, subtle changes in protein function induced by polymorphic DNA sequences may ultimately explain many reproductive disorders that commonly present to the endocrinologist.