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

Capsule:
We describe a novel heterozygous inactivating mutation of the LH/CG receptor.

Authors:
Yaakov Bentov, M.D., M.Sc., Shlomit Kenigsberg, Ph.D., Robert F. Casper, M.D.
Volume 97, Issue 5, Pages 1165-1168, May 2012

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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