Subsequently, an individual with hyperprolactinaemia and agalactia was reported with germline compound heterozygous nonsense (Arg171Stop) and missense (Pro269Leu) PRLR variants (Kobayashi et al. 2018), and recently, a germline Asn492Ile PRLR variant that increases receptor activity via the PI3K-Akt pathway was reported to be associated with a higher incidence of prolactinoma (Gorvin et al. 2018b). Here, PRLR is linked to Increased circulating prolactin concentration.