The segregation of pathogenic loss of function variants in PSMC3IP, NR5A1, and STAG3 with POI in 13 female carriers and non-obstructive azoospermia (NOA) in three male carriers in the studied pedigrees suggested a significant role of these variants in infertility in both genders (13, 17, 24, 36). Here, PSMC3IP is linked to Azoospermia.