Following written informed consent and with local ethics committee approvals, whole-exome sequencing was performed on 69 46,XX individuals with either unexplained virilization (n = 14) or unexplained OTDSD/TDSD (n = 55) as described elsewhere.13 Sanger sequencing of NR2F2 was performed on DNA from a further 10 individuals with 46,XX OTDSD/TDSD where there was insufficient DNA for complete exome analysis. Exclusion criteria included rearrangements involving SOX genes, mutations in either WNT4 or RSPO1, proven or suspected congenital adrenal hyperplasia (CAH), or the presence of SRY. All samples underwent array comparative genomic hybridization to confirm normal ploidy. Of the 79 children studied, 74 had no additional syndromic features. Of the 5 children with additional features, 3 were unrelated children with OTDSD/TDSD and CHD (with or without BPES), one had 46,XX TDSD with cerebral leukodystrophy, and another had 46,XX TDSD with multiple congenital anomalies, learning difficulties, and alopecia.