The molecular basis of sex determination and differentiation: Implications for understanding DSD

Abstract

DSD are a heterogeneous group of congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. They are complex conditions with regard to their diagnosis, management and sequelae, in particular infertility and risk of gonadal malignancy and therefore represent a major paediatric concern. They are mainly caused by a disruption in the complex network of gene regulation responsible for development of testes, ovaries and genital tracts in the embryo. Studies in both humans and mice have identified a number of genes that play a critical role in this process and that will be presented in this chapter.