NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Dorien BaetensHans StoopFrank PeelmanAnne-Laure TodeschiniToon RosseelFrauke CoppietersReiner A VeitiaLeendert H J LooijengaElfride De BaereMartine CoolsPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad.Genet Med 19 4, 367-376.