Rafaela Vieira Correa

TL;DR: A novel 8-bp microdeletion of SF-1 is described, isolated from a 46, XY patient who presented with gonadal agenesis but normal adrenal function, which causes premature termination upstream of sequences encoding the activation function 2 domain, the first example of an apparent dominant-negative effect of aSF-1 mutation in humans.

TL;DR: The ever‐expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5a1 defects in a variety of phenotypes presenting with gonadal dysfunction.

TL;DR: It is concluded that the SRY, DAX1, SF1 and WNT4 genes are rarely involved in the etiology of male gonadal development in sex-reversed patients, a fact suggesting the presence of other genes in the sex determination cascade.

TL;DR: Este artigo descreve a insercao longitudinal do conteudo de emergencias medicas no curriculo of um curso de Medicina, utilizando tecnicas de simulacao e reflexao acerca da pratica como metodologia de aprendizado, alem da vivencia em ambientes de praticA real.

TL;DR: The new achievements of molecular biology determined a better comprehension of the process of sexual determination and differentiation, with the identification of new genes that participate of this complex mechanism of gene interactions.