Interestingly, the posttranscription truncated isoform of DENND1A (DENND1A.V2) is overexpressed in women with PCOS and is functionally implicated in ovarian theca cell hyperandrogenism (204).While there are currently only a few studies investigating the contribution of rare genetic variants, this field will undoubtedly evolve in the future. This evidence concerns the gene DENND1A and polycystic ovary syndrome.