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hrp0086p1-p337 | Gonads & DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

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ESPE Abstracts

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

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