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

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

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Yaakov Bentov, M.D., M.Sc., Shlomit Kenigsberg, Ph.D., Robert F. Casper, M.D.

Vol 97, Issue 5, Pages 1165-1168



To study the cause for poor oocyte yield, amenorrhea, and recurrent pregnancy loss in a patient undergoing IVF.


Case report.


University-affiliated private IVF clinic.


A 33-year-old woman with amenorrhea, recurrent ovarian cyst formation, poor oocyte yield, and repeated chemical pregnancies after IVF treatments.


The hCG stimulation test and luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene sequencing.

Main Outcome Measure(s):

The presence of LHCGR gene mutations.


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.


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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)00215-4/fulltext

Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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