The patient carrying an additional ZFPM2 variant presented a more severe phenotype than another patient with the same NR5A1 variant (p.Arg84His) only; the heterozygous SRD5A2 variant (p.Arg227Gln) has been described in numerous patients with biallelic SRD5A2 mutations, but also as a monoallelic finding in patients with micropenis and/or hypospadias [9] (Table 1). Here, SRD5A2 is linked to Micropenis.