Mutations in the AR gene are a major cause of both complete androgen insensitivity syndrome (CAIS) and partial androgen insensitivity syndrome (PAIS), which represent key phenotypic manifestations of 46, XY DSD (https://www.uniprot.org/uniprotkb/P10275/entry; https://www.ncbi.nlm.nih.gov/gene/367). The gene discussed is AR; the disease is disorder of sexual differentiation.