Disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. In this Review, the authors outline the complex network of gene regulation that is required for gonadal development. They then describe gene mutations that perturb the delicate balance of the network and lead to DSDs. Finally, the authors discuss management of patients with DSDs.
- Makoto Ono
- Vincent R. Harley