Abstract

MELLO, Maricilda Palandi de; ASSUMPCAO, Juliana de G  and  HACKEL, Christine. Genes involved in sex determination and differentiation. Arq Bras Endocrinol Metab [online]. 2005, vol.49, n.1, pp. 14-25. ISSN 0004-2730.  http://dx.doi.org/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.