Mutations to NR5A1 gene encoding Steroidogenic Factor-1 (SF-1) have been found in a small subset of men with non-obstructive male factor infertility where the cause is unknown. Results of one study investigating a cohort of 315 men revealed changes within the hinge region of SF-1 and no rare allelic variants in fertile control men. Affected individuals displayed more severe forms of infertility such as azoospermia and severe oligozoospermia.
Repeated failed rounds of IVF can help identify causes of infertility. For example, if sperm and egg quality are normal, then the conception issue may be rooted at the embryonic or implantation level. In other words, if IVF fails to result in pregnancy despite successful fertilization, embryonic development or implantation may be to blame. Still this is a very expensive way to start getting answers.