Journal article

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Sylvie Jaillard, Rajini Sreenivasan, Marion Beaumont, Gorjana Robevska, Christele Dubourg, Ingrid M Knarston, Linda Akloul, Jocelyn van den Bergen, Sylvie Odent, Brittany Croft, Guilhem Jouve, Sonia R Grover, Solene Duros, Celine Pimentel, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Celia Ravel, Elena J Tucker, Andrew H Sinclair



Ovarian deficiency, including diminished ovarian reserve and premature ovarian insufficiency, represents one of the main causes of female infertility. Little is known of the genetic basis of diminished ovarian reserve, while premature ovarian insufficiency often has a genetic basis, with genes affecting various processes. NR5A1 is a key gene required for gonadal function, and variants are associated with a wide phenotypic spectrum of disorders of sexual development, and are found in 0.26-8% of patients with premature ovarian insufficiency. As there is some debate about the extent of involvement of NR5A1 in the pathogenesis of ovarian deficiency, we performed an in-depth analysis of NR5A1 var..

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