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In this study, we identified two novel heterozygous variants in the LHCGR gene (c.349G>A, p.Gly117Arg and c.878C>A, p.Ser293 (*)) causing type 1 Leydig cell hypoplasia in a 2.75 year old patient presenting with female external genitalia and bilateral testis tissue in the inguinal region.
Introduction The human luteinizing hormone (LH)/chorionic gonadotropin (CG) receptor (LHCGR; OMIM #52790) gene belongs to the G-protein coupled receptor 1 family.
In this study, we report a rare pediatric patient of type 1 LCH due to novel, compound heterozygous mutations in the LHCGR gene.
(A) Ovarian gene expression of Pgr, Lhcgr, Fshr, Cyp11a1, Star, Cyp19a1, Cyp17a1, Hsd3b1, and Hsd17b1 from mice treated with vehicle (veh) (n = 14), Ethinylestradiol (EE) (n = 9), BPA 30 (n = 9), 300 (n = 9), 900 ppm (n = 9), and BPAF 30 (n = 8), 300 (n = 10), 900 ppm (n = 8).
Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature.
The PKB/AKT pathway plays a key role in survival of GCs (18) and FSH-induced Lhcgr expression (28).
It has been demonstrated that FSH stimulation of rat GCs led to PI3Kinase/ AKT activity which by phosphorylation of FOXO1 relieves repression of Lhcgr promoter activity (28).
Association of a missense mutation in the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) with superovulation traits in Chinese Holstein heifers.
LHCGR gene sequencing demonstrated a homozygous c.1435C > T (p.R479*) mutation that confirmed the diagnosis.
However, in the GWAS study, it was reported that rs13405728 (LHCGR), rs3802457 (C9orf3), rs1894116 (YAP1), rs2272046 (HMGA2), rs4784165 (TOX3), rs2059807 (INSR), and rs6022786 (SUMO1P1) were associated with PCOS risk in Han China (7).
I have reviewed the letter to the editor regarding "Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene".
I appreciate authors' interest and contributions to our report about 2 cases with LHCGR gene mutations.
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