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impe0096fc9.1 | Endocrinology of Sex Differences 2 | IMPE2023

Uncovering the role of the SF-1/NR5A1 p.Gly146Ala variant for the phenotype of DSD patients

Martinez de Lapiscina Idoia , Kouri Chrysanthi , Aurrekoetxea Josu , Sanchez Mirian , Naamneh Rawda , Sommer Grit , Sauter Kay , Camats Nuria , Grau Gema , Rica Itxaso , Rodriguez Amaia , Vela Amaia , Cortazar Alicia , Concepción Alonso M , Bahillo Pilar , Berthod Laura , Esteva Isabel , Castaño Luis , E Flück Christa

Background and Aim: The SF-1/NR5A1 variant c.437G>C/p.Gly146Ala is common among individuals with disorders/differences of sex development (DSD). It has been considered a polymorphism due to its high allele frequency in the control population (23.5%, gnomAD) and its lack of negative effect in cell-based studies. However, its possible role as a disease modifier is still unclear given that oligogenic inheritance has been described in patients with SF1...

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Uncovering the role of the SF-1/NR5A1 p.Gly146Ala variant for the phenotype of DSD patients

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