ea0034oc1.6 | Young Endocrinologists prize session | SFEBES2014
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...