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Male and female infertility are clinically managed and classified as distinct diseases, and relatively little is known about mechanisms of gonadal function common to both sexes. We used genome-wide genetic analysis on 74,896 women and men to find rare genetic variants that modulate gonadal function in both sexes. This uncovered an association with variants disrupting CSMD1 , a complement regulatory protein located on 8p23, in a genomic region with an exceptional evolution. We found that Csmd1doi:10.1101/233825 fatcat:hwy2vnuhgva2zevtiqtsxhkdh4