Some patients with ovarian hyperstimulation syndrome may have mutations in the gene for FSHR, making them more sensitive to gonadotropin stimulation.
Women with 46 XX gonadal dysgenesis  experience primary amenorrhea with hypergonadotropic hypogonadism. There are forms of 46 xx gonadal dysgenesis  wherein abnormalities  in the FSH-receptor have been reported and are thought to be the cause of the hypogonadism.
Polymorphism may affect FSH receptor populations and lead to poorer responses in infertile women receiving FSH medication for IVF.
Alternative splicing of the FSHR gene may be implicated in subfertility in males