The orphan nuclear receptor NR2F2 gene, which encodes the transcription factor chicken ovalbumin upstream promoter transcription factor 2 (COUP-TF2), has been described as a “pro-ovary and anti-testis” gene following the identification of two frameshift variants in three syndromic 46,XX children, one with ovarian dysgenesis and the other with OT DSD, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) [81]. This evidence concerns the gene NR2F2 and disorder of sexual differentiation.