Imaging and examination strategies of normal male and female sex development and anatomy

Over recent years a variety of new details on the developmental biology of sexual differentiation has been discovered. Moreover, important advances have been made in imaging and examination strategies for urogenital organs, and these have added new knowledge to our understanding of the ‘normal’ anatomy of the sexes. Both aspects contribute to the comprehension of phenotypic sex development, but they are not commonly presented in the same context. This will be attempted in this chapter, which aims to link discoveries in developmental biology to anatomical details shown by modern examination techniques. A review of the literature concerning the link between sexual development and imaging of urogenital organs was performed. Genes, proteins and pathways related to sexual differentiation were related to some organotypic features revealed by clinical examination techniques. Early ‘organotypic’ patterns can be identified in prostatic, urethral and genital development and followed into postnatal life. New imaging and endoscopy techniques allow for detailed descriptive anatomical studies, hopefully resulting in a broader understanding of sex development and a better genotype–phenotype correlation in defined disorders. Clinical description relying on imaging techniques should be related to knowledge of the genetic and endocrine factors influencing sex development in a specific and stepwise manner.