MCM9-related gametogenic failure

A disorder of sexual differentiation caused by biallelic variation in the MCM9 gene. Affected females (46,XX) may present with primary ovarian insufficiency or ovarian dysgenesis with short stature; affected males (46,XY) may present with non-obstructive azoospermia due to meiotic failure. Biallelic MCM9 variants have also been associated with predisposition to early-onset colorectal cancer, polyposis, gastric cancer, and germ cell tumors.