Searchable abstracts of presentations at key conferences in endocrinology

ea0034oc1.6 | Young Endocrinologists prize session | SFEBES2014

A loss-of-function mutation in the prolactin receptor causes familial hyperprolactinaemia

Gorvin Caroline , Newey Paul , Cleland Stephen , Willberg Christian , Bridge Marcus , Azharuddin Mohammed , Drummond Russell , van der Merwe Anton , Klenerman Paul , Bountra Chas , Thakker Rajesh

The prolactin receptor (PRLR) is a member of the class I cytokine receptor family that signals predominantly through the JAK2–STAT5 pathway. To date, PRLR mutations have not been established to be associated with any disorders. Here, we report a PRLR mutation (His188Arg) that caused familial hyperprolactinaemia in three sisters, two of whom presented with oligomenorrhea and one with infertility. The hyperprolactinaemia was not associated with pituitary tumours, which were...