Searchable abstracts of presentations at key conferences in endocrinology

ea0090p129 | Pituitary and Neuroendocrinology | ECE2023

Asymptomatic Familial Hyperprolactinemia Caused by a Unique bi-Allelic Variant in the Prolactin-Receptor Gene

Natif Yoav , Jean Matan M. , Birk Ohad S. , Eskin-Schwartz Marina , Fraenkel Merav , Yoel Uri

Introduction: Hyperprolactinemia is usually an acquired condition. Typical clinical manifestations include hypogonadism, infertility, and galactorrhea. Rarely, hyperprolactinemia has been attributed to a variant in the prolactin receptor gene (PRLR), presenting as agalactia, without hypogonadism, infertility, or galactorrhea.Aim: In the current study we aimed to delineate the clinical phenotype and the genetic basis of marked hyperprolactinemia ...