LHCGR

The LHCGR gene encodes the luteinizing hormone/choriogonadotropin receptor (LHCGR), also known as LHR or hCG receptor—a G protein-coupled receptor (GPCR) expressed in testicular Leydig cells and ovarian theca/luteal cells. Binding to luteinizing hormone (LH) or human chorionic gonadotropin (hCG) activates the cAMP-PKA signaling pathway, driving steroid hormone synthesis (testosterone, progesterone) critical for reproductive development and fertility.
Mutations in LHCGR cause diverse disorders: loss-of-function leads to male pseudohermaphroditism, while gain-of-function may induce precocious puberty. Therapeutically, LHCGR agonists (e.g., recombinant hCG) aid ovulation induction, and antagonists (e.g., cetrorelix) prevent ovarian hyperstimulation syndrome in assisted reproduction, leveraging its central role in gonadal hormone regulation.