2022
DOI: 10.5734/jgm.2022.19.2.115
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The rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant inNR5A1

Abstract: The 46,XX testicular disorder of sex development (DSD) is a rare condition in which 46,XX individuals develop testicular differentiation and virilization. Translocation of the sex-determining region Y (SRY) onto the X chromosome is the main cause of 46,XX testicular DSD, whereas dysregulation between pro-testis and pro-ovarian genes can induce SRY-negative 46,XX testicular DSD. Nuclear receptor subfamily 5 group A member 1 (NR5A1), a nuclear receptor transcription factor, plays an essential role in gonadal dev… Show more

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