Of the further 22 with a genetic alteration identified on genetic testing, 10 (14%) had a SRD5A2 variant, 8 (12%) had a variant in a gene consistent with hypogonadotrophic hypogonadism [most commonly CHD7 in 4 (6%)], 2 (3%) had an AMHR variant, 1 (1%) had an AR variant, and 1 (1%) had a POLD1 variant. The gene discussed is AR; the disease is hypogonadotropic hypogonadism.