Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia

• Main Authors: Mei Yan (Author), Julaiti Dilihuma (Author), Yanfei Luo (Author), Baoerhan Reyilanmu (Author), Yiping Shen (Author), Maimaiti Mireguli (Author)
• Format: Book
• Published: Galenos Yayincilik, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...