Novel FSHR mutations causing primary ovarian insufficiency with resistant ovary syndrome

Primary ovarian insufficiency (POI) is one of the leading causes of female infertility due to the partial or total loss of ovarian function prematurely. Resistant ovary syndrome (ROS) is a subtype of POI manifested as normal ovarian reserve and insensitive to gonadotropins stimulation. In this study, we sought the genetic causes of a primary infertility patient manifested as POI with ROS, and elucidated the structural and functional impacts of variants with uncertain significance.