No hormonal data were available to confirm androgen insufficiency; however, our panel did identify a previously described variant in Androgen Receptor (AR:NM_000044:exon7:c.2599G > A:p.Val867Met) (MIM# 313700) in association with androgen resistance syndrome (AIS; MIM# 300068), consistent with the patient's phenotype (detailed in Table 1 and Table S1). The gene discussed is AR; the disease is androgen insensitivity syndrome.