This aspect together with the aforementioned decrease in testicular volume over the course of puberty starting from a normal size, and the fact that NR5A1 mutations are a known cause for infertility [45–47] highlights the importance to keep the possibility of early spermiogram and cryopreservation in patients with an NR5A1 mutation in mind. The gene discussed is NR5A1; the disease is Infertility.