ESPE Abstracts

ESPE Abstracts

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hrp0086lbp10 | (1) | ESPE2016

Molecular Analysis of AR, SRD5A2, NR5A1 and HSD17B3 Genes in a Brazilian 46,XY DSD Cohort

Petroli Reginaldo Jose , Lessa Victor Jose Correia , Vieira Larissa Clara , de Calais Flavia Leme , Fabbri Helena Campos , Henriques Taciane Barbosa , dos Santos Cruz Piveta Cristiane , do Nascimento Diogo Lucas Lima , de Mello Maricilda Palandi , Monlleo Isabella Lopes

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...
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ESPE Abstracts

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