Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/199722
Type: Artigo de periódico
Title: Multifunctional Role Of Steroidogenic Factor 1 And Disorders Of Sex Development.
Author: Mello, Maricilda Palandi de
França, Emerson Salvador de Souza
Fabbri, Helena Campos
Maciel-Guerra, Andréa Trevas
Guerra-Júnior, Gil
Abstract: 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.
Subject: Child
Disorders Of Sex Development
Female
Humans
Male
Mutation
Steroidogenic Factor 1
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/22218443
Date Issue: 2011
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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