Abstract
The process of sexual differentiation is central for the reproduction of almost all metazoan, and therefore for the maintenance of multicellular organisms. In sex development, we can distinguish two different processes¸ sex determination, the l decision directing the undifferentiated embryo into a sexually dimorphic individual. In mammals, sex determination equals gonadal development. The second process, sex differentiation, takes place once factors produced by the gonads determine the development of the phenotypic sex. Most of the knowledge on the factors involved in sexual development come from animal models and from studies of cases in which the genetic or the gonadal sex does not match the phenotypical sex, i.e. patients affected by disorders of sex development (DSD). This review focuses on the factors involved in gonadal determination and whenever possible, references on the 'prismatic' clinical cases are given. Furthermore, examples of diagnostic procedures for these complex diseases will be discussed.
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