Arq Bras Endocrinol Metab 2005;49(1):14-25
Genes involved in sex determination and differentiation
DOI: 10.1590/S0004-27302005000100004
Chromosomal sex is established at fertilization by the presence of an X or Y chromosome. The first step of male and female development is gonadal specialization in testes or ovaries; all other processes that follow result from secondary effects produced by testis and ovary hormones. Gonadal determination and differentiation and the development of external genitalia involve time- and tissue-specific expression of genes forming a gene cascade. Those genes, their expression profile and their role in the pathological manifestations related to gonadal and external genitalia development will be discussed in this review.
Keywords: Chromosome; Gene; Gonadal differentiation; Gonadal dysgenesis; sex; SRY