A Case Report of a Novel Homozygote Mutation Causing Severe Leydig Cell Hypoplasia: Insights into the Coexistence of Nonsense Mutation and Polymorphism in the Same LHCGR Gene Locus

This case report described a 32-year-old phenotypically female patient with a 46,XY karyotype who presented with primary amenorrhea and female external genitalia, diagnosed with severe Leydig cell hypoplasia. The condition was linked to a novel homozygote nonsense mutation (p.Gln303Trm) and a second homozygote polymorphism (p.Asn312Ser) in the LHCGR gene. The patient exhibited elevated luteinizing hormone levels, normal testosterone levels for females, and elevated anti-Mullerian hormone and inhibin B. The study highlighted the importance of molecular analysis in understanding the genotypic spectrum of LHCGR mutations. Hormone replacement therapy with estradiol was initiated, and surgical removal of the inguinal testicles was planned.