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Disorders of Sex Development and Germ Cell Cancer: genetics and microenvironment

textabstractThe 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.