Hormonal abnormalities leading to disorders of sexual development.

Normal human sexual development occurs in a highly regulated process that comprises three distinct phases: establishment of chromosomal sex, development of the sex-specific gonads and phenotypic differentiation of the internal ductal anatomy and external genitalia. The latter two phases are mediated by specific hormonal effector molecules, including anti-Müllerian hormone and testosterone, and their dysregulation often leads to the development of a phenotypic disorder of sexual differentiation. This review describes the hormonal mediators that are involved in sexual development and the disorders of sexual differentiation that arise from their dysfunction.