SUMMARYDisorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1. Arq Bras Endocrinol Metab. 2011;55(8):607-12 Keywords Steroidogenic factor 1; NR5A1 gene; disorders of sex development
SUMÁRIOOs distúrbios do desenvolvimento sexual (DDS) envolvem várias condições que resultam de anormalidades que podem acontecer tanto na determinação como durante a diferenciação gonadal. Algumas dessas doenças podem se manifestar ao nascimento principalmente por genitália ambígua, outras são diagnosticadas apenas na puberdade por atraso no aparecimento de características sexuais secundárias. A determinação e a diferenciação do sexo em seres humanos são processos que envolvem interações entre vários genes nas vias testicular, tais como NR5A1, NR0B1, WT1, SOX9, entre outros, e ovariana, tais como WNT4, DAX1, FOXL2 e RSPO1. Uma das principais proteínas na diferenciação gonadal de mamíferos é o fator esteroidogênico e receptor nuclear 1 (SF1). Esta revisão cobrirá alguns dos dados mais recentes sobre os papéis funcionais de SF1 e as últimas descobertas relacionadas a mutações em seu gene, NR5A1. Arq Bras Endocrinol Metab. 2011;55(8):607-12 Descritores Fator esteroidogênico 1; gene NR5A1; doenças do desenvolvimento sexual T he presence or absence of the Y chromosome in the karyotype of most mammals, including hu mans, is linked, respectively, to the processes of male and female sex determination and differentiation (1,2). Sex development is classically divided into three stages: determination, which is chromosomally established at fertilization; differentiation of the gonads from undif ferentiated embryonic structures into testes or ovaries; and secondary sexual differentiation, which is the res ponse of innumerous tissues to hormones produced by either gonads to complete sexual maturation during puberty (3). Disorders of sex development (DSD) in volve several conditions that result from abnormalities in one of the three stages. Some of these disorders may Copyright © ABE&M todos os direitos reservados.
608Arq Bras Endocrinol Metab. 2011;55/8 SF1 and disorders of sex development manifest at birth by ambiguous genitalia; others are di agnosed only at puberty by delayed onset of secondary sexual characteristics (4,5). In cases of newborns with ambiguous genitalia, the definition of appropriate sex is ...
