Background: The human Luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene belongs to the G protein–coupled receptor family. The LHCGR gene encodes a shared receptor for luteinizing hormone (LH) and chorionic gonadotropin (hCG).

Case Summary: A 7-year-old male (46,XY) child with hypospadias as an initial diagnosis was later found to have abnormal hormone levels (low testosterone, high LH). Genetic studies confirmed a defect in the LHCGR gene.

Conclusion: The LHCGR gene defect provides insights into distinct physiological roles of LH in reproduction. This case highlights the importance of considering LHCGR mutations in managing patients with disorders of sex development (DSD).