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...

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Autors principals:	Mei Yan, Julaiti Dilihuma, Yanfei Luo, Baoerhan Reyilanmu, Yiping Shen, Maimaiti Mireguli
Format:	Artigo
Idioma:	Inglês
Publicat:	Pediatric Endocrinology and Diabetes Society 2019-06-01
Col·lecció:	JCRPE
Matèries:	Disorder of sexual differentiation Leydig cell hypoplasia LHCGR gene novel variants
Accés en línia:	http://www.jcrpe.org/archives/archive-detail/article-preview/novel-compound-heterozygous-variants-in-the-ilhcgr/19934
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