We chose 4 MAMLD1 variants (H347Q, P359S, V505A and N662S), previously detected in controls and 46,XY DSD patients [3, 5–7] and/or referenced in dbSNP (http://www.ncbi.nlm.nih.gov/snp/) to compare their genotype and allele frequency in a cohort of 155 normal adult male controls (Table 2) and our cohort of 108 46,XY patients (Table 2) (with phenotypes varying from penoscrotal hypospadias to female external genitalia and including the 9 in whom MAMLD1 sequence variations were detected, Table 1). This evidence concerns the gene MAMLD1 and disorder of sexual differentiation.