Based on the results obtained from the study by Philibert et al. (26) describing a WNT4 heterozygous mutation in four cases with MRKH syndrome and hyperandrogenism, we sequenced the WNT4 gene in 46,XX patients with DSD with abnormal development of the Müllerian structures, but did not find any DNA alteration. This evidence concerns the gene WNT4 and disorder of sexual differentiation.