SF1 and Infertility: Pathogenic SF‐1 variants are associated with a spectrum of phenotypes in 46,XY subjects including testicular dysgenesis/dysfunction (46,XY differences/disorders in sex development), severe hypospadias (accounting for approximately 5%‐7% of cases) and male factor infertility (1%‐2%).21, 22, 23, 24, 25, 26, 27, 28 Although data are limited, it has been proposed that this subset of infertile men could develop hypogonadism and low testosterone with time, so this may represent a group who need longer term endocrine follow‐up.25