Gorsic et al. (2019) and Gorsic et al. (2017) identified functional PCOS-specific heterozygous rare coding, as well as noncoding, variants in the AMH and AMH-specific type 2 receptor (AMHR2) genes in ∼7% of the women of their European ancestry PCOS cohort. In vitro analysis showed that the AMH protein-altering variants resulted in reduced AMH signaling in a dominant negative manner. Here, AMHR2 is linked to polycystic ovary syndrome.