Abstract
During sexual determination and differentiation, sexually indifferent organisms adopt male or female fates. In mammals, these processes are classically categorized in three separate steps: chromosomal, genetic, and phenotypic sexual development. Chromosomal sex is established at fertilization, based on the chromosomes inherited from each parent. Genetic sex is established when sex-specific genetic cues direct formation of ovaries or testes from the bipotential gonads. Finally, phenotypic sex involves growth and development of secondary sexual characteristics, in part controlled by the release of sex-specific steroids from the ovaries or testes. This chapter discusses in detail the mechanisms underlying each of these three stages of sexual determination and differentiation. Focusing on data gained from developmental mouse models and human patient studies, recent breakthroughs are highlighted, and remaining gaps in knowledge are discussed.
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