Resenha
Multifunctional role of steroidogenic factor 1 and disorders of sex development
Fecha
2011-11-01Registro en:
Arquivos Brasileiros De Endocrinologia E Metabologia. Rio De Janeiro, Rj: Sbem-soc Brasil Endocrinologia & Metabologia, v. 55, n. 8, p. 607-612, 2011.
0004-2730
S0004-27302011000800015.pdf
S0004-27302011000800015
10.1590/S0004-27302011000800015
WOS:000298885900015
Autor
Mello, Maricilda Palandi de [UNIFESP]
França, Emerson Salvador de Souza
Fabbri, Helena Campos
Maciel-Guerra, Andrea Trevas
Guerra-Junior, Gil
Institución
Resumen
Disorders 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