A novel luteinizing hormone/chorionic gonadotropin receptor mutation associated with amenorrhea, low oocyte yield, and recurrent pregnancy loss

ObjectiveTo study the cause for poor oocyte yield, amenorrhea, and recurrent pregnancy loss in a patient undergoing IVF.DesignCase report.SettingUniversity-affiliated private IVF clinic.Patient(s)A 33-year-old woman with amenorrhea, recurrent ovarian cyst formation, poor oocyte yield, and repeated chemical pregnancies after IVF treatments.Intervention(s)The hCG stimulation test and luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene sequencing.Main Outcome Measure(s)The presence of LHCGR gene mutations.Result(s)The patient had a markedly abrogated androgen response to 10,000 IU of hCG. A novel heterozygous inactivating mutation in exon 1 of the LHCGR gene was detected. This mutation was superimposed on a common LHCGR polymorphism.Conclusion(s)This novel mutation may provide a potential genetic mechanism for the poor oocyte recovery in some IVF cases. It is the first example of a heterozygous inactivating mutation in the LHCGR gene.