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

作者：Bentov Yaakov^*; Kenig**erg Shlomit; Casper Robert F

来源：Fertility and Sterility, 2012, 97(5): 1165-1168.

DOI：10.1016/j.fertnstert.2012.02.002

• LHCGR mutation
• amenorrhea
• recurrent cyst formation
• poor oocyte yield in IVF
• recurrent early pregnancy loss

Objective: To study the cause for poor oocyte yield, amenorrhea, and recurrent pregnancy loss in a patient undergoing IVF.
Design: Case report.
Setting: University-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. (Fertil Steril (R) 2012;97:1165-8.

• 出版日期2012-5