Genetic determinants of sexual development in man

The processes of sex determination and sex differentiation involve complex interactions of molecular and morphological events leading to the development of the male or female phenotype. In humans, development of sex is requiring multiple gene products. Errors occurring at any of stages during the sexual development result in defective sexual differentiation. Aberrations usually result in primary sex reversal syndromes with discrepancy between the karyotypic and phenotypic sex and/or ambiguous genitalia and a whole range of intersex disorders. Therefore the investigation of patients with abnormalities in sexual development will help elucidate the mechanisms of sex determination and gonadal differentiation