Both probands with the GATA4 p.P394T variant had an additional DSD gene variant; case 3 ZFPM2:NM_012082:c.1003C > G (p.L335V) (benign classification) and case 4 had a well‐described pathogenic variant in the ligand binding domain of the androgen receptor (AR:NM_000044.4:exon7:c.2599G > A (p.V867M)) (Abilash et al., 2016; Li et al., 2017; Lubahn et al., 1989) in association with androgen resistance syndrome (AIS; MIM# 300068), consistent with the patients phenotype (Table S1). This evidence concerns the gene GATA4 and complete androgen insensitivity syndrome.