NR5A1 and hereditary disease: Nevertheless, similar to the allelic substitution c.437G>C in the NR5A1 gene not correlating with POI in the present study, this genotypic variant did not affect the risk of hypospadias in male Caucasian patients [42], nor was it associated with congenital lipoid adrenal hyperplasia [43]; therefore, this genotypic variant does not confer the risk of developing a genetic disease, but rather represents a component contributing to the variability of the human genome.