Disorders of Sex Development : Clinical outcomes, (epi)genetic regulation and germ cell cancer

Abstract

One of the most fundamental aspects of early human development is establishment of sex, which can be defined as the biological qualities that differentiate between male and female. The process of normal sex development is strictly controlled by functionality of a number of genes, both protein encoding- and noncoding-, in which the existing networks can act both on transcription (formation of RNA) and translation (formation of protein) regulation. Sexually dimorphic development of the reproductive system is the result of three sequential processes: chromosomal sex, formation and subsequent differentiation of the bipotential gonad into either testis or ovary (referred to as sex determination), and finally sex-specific development of the reproductive tracts and external genitalia under influence of hormones produced by the gonads (referred to as sex differentiation).