A novel luteinizing hormone/chorionic gonadotropin receptor mutation associated with amenorrhea, low oocyte yield, and recurrent pregnancy loss
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Published on: May 11, 2017
Yaakov Bentov1, Shlomit Kenigsberg, Robert F Casper
1Toronto Centre for Advanced Reproductive Technology, University of Toronto, Toronto, Ontario, Canada. bentov@lunenfeld.ca
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.
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