Avaliação molecular do gene WT1 em pacientes pre-puberes com disgenesia gonadal parcial

AUTOR(ES)
DATA DE PUBLICAÇÃO

2004

RESUMO

Male sex detennination in humans depends on the presence of one Y chromosome, which by SRY gene expression leads to the differentiation of the gonadal primordia into testes. Other genes are involved in male sex determination and differentiation, such as the WTl, that codes a "zinc finger" transcription factor essential to the gonadal and renal development in mammals. It is known that germinal WTl mutations are related to Wilms tumor formation, gonadal differentiation disorders and urogenital malformations, which are seen in the WAGR, Denys-Drash and Frasier syndromes. In the present study, we evaluated the presence of WTl gene mutations in eleven pre-pubertal patients with sex ambiguity, 46,XY karyotype and gonadal dysgenesis, two of them with clinical diagnosis of Denys-Drash syndrome (DDS). In all cases, molecular alterations in the SRY gene have been excluded...Note: The complete abstract is available with the full electronic digital thesis or dissertations

ASSUNTO(S)

diferenciação dos sexos hermafroditismo identidade sexual aparelho genitourinario - anomalias rins - doenças disturbios de diferenciação sexual

ACESSO AO ARTIGO

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