Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia
The LHCGR gene encodes a G-protein coupled receptor that plays a pivotal role in sexual differentiation in males, ovarian development in females and in fertility via its interaction with luteinizing hormone and chorionic gonadotropin. Inactive variants of the LHCGR gene cause Leydig cell hypoplasia...
Main Authors: | Mei Yan, Julaiti Dilihuma, Yanfei Luo, Baoerhan Reyilanmu, Yiping Shen, Maimaiti Mireguli |
---|---|
Format: | Article |
Language: | English |
Published: |
Galenos Yayincilik
2019-06-01
|
Series: | JCRPE |
Subjects: | |
Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/novel-compound-heterozygous-variants-in-the-ilhcgr/19934
|
Similar Items
-
A severe case of testotoxicosis in an infant due to a c.1732G>C (p.ASP578His) LHCGR gene mutation associated with nodular Leydig cell hyperplasia
by: Amrit Bhangoo, et al.
Published: (2019-02-01) -
Effect of LHCGR Gene Polymorphism (rs2293275) on LH Supplementation Protocol Outcomes in Second IVF Cycles: A Retrospective Study
by: Ramaraju GA, et al.
Published: (2021-05-01) -
Circulating LH/hCG receptor (LHCGR) may identify pre-treatment IVF patients at risk of OHSS and poor implantation
by: Chambers Anne E, et al.
Published: (2011-12-01) -
Association of a missense mutation in the luteinizing hormone/choriogonadotropin receptor gene (<it>LHCGR</it>) with superovulation traits in Chinese Holstein heifers
by: Yu Yong, et al.
Published: (2012-11-01) -
Quantitative ELISAs for serum soluble LHCGR and hCG-LHCGR complex: potential diagnostics in first trimester pregnancy screening for stillbirth, Down’s syndrome, preterm delivery and preeclampsia
by: Chambers Anne E, et al.
Published: (2012-12-01)