Dec 25, 2024 · LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor) is a Protein Coding gene. Diseases associated with LHCGR include Precocious Puberty, Male-Limited and Leydig Cell Hypoplasia, Type I. Among its related pathways are Class A/1 (Rhodopsin-like receptors) and GPCR downstream signalling.

The LHCGR is able to differentiate the activity of luteinizing hormone and chorionic gonadotropin. A novel point mutation of the LHCGR gene has been identified in a family affected with FMPP. The c.1703C>T mutant LHCGR was confirmed to be constitutively active, which has led to maturation and proliferation of Leydig cells.

LHCGR gene mutations that cause Leydig cell hypoplasia disrupt luteinizing hormone/chorionic gonadotropin receptor function, impeding the body's ability to react to these hormones. In males, the mutations result in poorly developed or absent Leydig cells and impaired production of …

May 21, 2022 · LHCGR expression predominates in ovarian tissues where it elicits functional responses through cyclic adenosine mononucleotide (cAMP), Ca 2+ and extracellular signal-regulated kinase (ERK)...

The authors suggested that there is a strong founder effect in the U.S., where greater than 90% of testotoxicosis families have the asp578-to-gly mutation. Only 12 LHCGR gene mutations had been reported in a total of 68 independent patients and families.

LHCGR binds luteinizing hormone (LH) as well as the highly homologous chorionic gonadotropin. Signaling from LHCGR is required for steroidogenesis and gametogenesis in males and females and for sexual differentiation in the male.

Keywords: Function, hCG, infertility, LH, LHCGR, mutation, ovulation, polymorphism Introduction Luteinizing hormone (LH) and human chorionic gonadotropin (hCG) serve different roles in reproductive physiology: LH contributes to the driving force behind gonadal steroidogenesis and regulation of ovulation, whereas hCG (in the absence of ...

Purpose: To screen novel mutations in LHCGR responsible for empty follicle syndrome and explore the pathological mechanism of mutations. Methods: Four affected individuals diagnosed with infertility-associated anovulation or oligo-ovulation …

Dec 10, 2024 · Clinical resource with information about LHCGR, A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation., Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome., Genome-wide association study identifies ...

May 21, 2022 · The human luteinising hormone choriogonadotropin receptor (LHCGR) is a G-protein coupled receptor activated by both human chorionic gonadotropin (hCG) and luteinizing hormone (LH), two structurally related gonadotropins with essential roles in ovulation and maintenance of the corpus luteum.