The ultimate purpose of sexual reproduction, which depends on specialized male and female anatomy and physiology, is to enable continuation of a species and introduction of genetic diversity. In mammals the developmental path towards a male or a female is in principle determined at the moment of fertilization, when either a Y- or an X-chromosome is inherited from the father. The subsequent chromosomal constitution, either XY (male) or XX (female) (referred to as chromosomal sex), will eventually drive formation of a testis or an ovary (the so called gonadal sex). This in turn will result in the next step in sex determination (the phenotypic sex), ultimately leading to a phenotypical male or female respectively. Because of the relevance of the general principles related to this phenomenon in understanding the various levels in which pathological gonadal processes can occur, the next paragraphs will explain these issues in more detail. These are schematically shown in Figure 1 and 2. Some of the items to be discussed are (partially) presented in Chapter 3.

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L.H.J. Looijenga (Leendert) , S.L.S. Drop (Stenvert)
Erasmus University Rotterdam
Erasmus MC: University Medical Center Rotterdam

Hersmus, R. (2012, June 13). Disorders of Sex Development and Germ Cell Cancer: genetics and microenvironment. Retrieved from