Embryology and differences of sex development

Differences of Sex Development (DSD) encompasses a broad group of diagnoses that occur when there is any discordance between chromosomal, gonadal, or phenotypic sex. This chapter includes a brief overview of normal sexual development to provide a framework in which to understand how different types of DSD occur. It will also review common diagnoses as well as general evaluation and management of these patients. It is crucial to understand that diagnosis and management of these patients is highly individualized and should always involve a team approach, which includes the pediatric urologist, endocrinologist, geneticist, psychologist, and the child’s parents.