PSMC3IP and Primary amenorrhea: Yang et al. previously reported that a patient who had primary amenorrhea was determined to have a heterozygous loss-of-function mutation in PSMC3IP and had nonvisible ovaries on ultrasonographic imaging [57].Similarly, Mei et al. reported a patient with primary amenorrhea, carrying two biallelic PSMC3IP mutations (c.597 + 1G > T and c.268G > C), which were inherited from her biological parents.