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

28 May 2019

Abstract excerpt

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 (LCH), which is a rare disease and one of the causes of disorder of sexual differentiation (DSD) in males. The aim...

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Identifiers

PMID: 30444213
DOI: 10.4274/jcrpe.galenos.2018.2018.0197

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Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External GenitaliaPMID 30444213Read ↗

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