Considering hypogonadotropic hypogonadism caused by biallelic variants in POLR3B, serum reproductive hormone levels, including testosterone (TST), follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2) and progesterone (PRG), were detected and were within normal range. Here, POLR3B is linked to hypogonadotropic hypogonadism.