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Gonadal development is the first step in human reproduction. Aberrant gonadal development during the fetal period is a major cause of disorders/differences of sex development (DSD). To date, pathogenic variants of three nuclear receptor genes (<i>NR5A1</i>, <i>NR0B1</i>, and <i>NR2F2</i>) have been reported to cause DSD via atypical testicular development. In this review article, we describe the clinical significance of the <i>NR5A1</i> variants as the cause of DSD and introduce novel findings from recent studies. <i>NR5A1</i> variants are associated with 46,XY DSD and 46,XX testicular/ovotesticular DSD. Notably, both 46,XX DSD and 46,XY DSD caused by the <i>NR5A1</i> variants show remarkable phenotypic variability, to which digenic/oligogenic inheritances potentially contribute. Additionally, we discuss the roles of <i>NR0B1</i> and <i>NR2F2</i> in the etiology of DSD. <i>NR0B1</i> acts as an anti-testicular gene. Duplications containing <i>NR0B1</i> result in 46,XY DSD, whereas deletions encompassing <i>NR0B1</i> can underlie 46,XX testicular/ovotesticular DSD. <i>NR2F2</i> has recently been reported as a causative gene for 46,XX testicular/ovotesticular DSD and possibly for 46,XY DSD, although the role of <i>NR2F2</i> in gonadal development is unclear. The knowledge about these three nuclear receptors provides novel insights into the molecular networks involved in the gonadal development in human fetuses.