The Molecular Basis of Gonadal Development and Disorders of Sex Development

Abstract

Disorders of Sex Development (DSD) are congenital conditions where the development of chromosomal, gonadal or anatomical sex is atypical. In most cases this is due to a breakdown of gene regulatory networks that are responsible for appropriate gonad development. Studies in humans and mice have identified a number of genes that play critical roles in testis and ovary development. In this chapter we review some of the key genes involved in gonad development and describe how defects affecting these genes result in DSD.