title: A novel luteinizing hormone/chorionic gonadotropin receptor mutation associated with amenorrhea, low oocyte yield, and recurrent pregnancy loss.
abstract: OBJECTIVE
  To study the cause for poor oocyte yield, amenorrhea, and recurrent pregnancy loss in a patient undergoing IVF.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University-affiliated private IVF clinic.
  
  
  METHODS
  A 33-year-old woman with amenorrhea, recurrent ovarian cyst formation, poor oocyte yield, and repeated chemical pregnancies after IVF treatments.
  
  
  METHODS
  The hCG stimulation test and luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene sequencing.
  
  
  METHODS
  The presence of LHCGR gene mutations.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Toronto Centre for Advanced Reproductive Technology, University of Toronto, Toronto, Ontario, Canada. bentov@lunenfeld.ca
authors.forename: Yaakov
authors.initials: Y
authors.lastname: Bentov
authors.forename: Shlomit
authors.initials: S
authors.lastname: Kenigsberg
authors.forename: Robert F
authors.initials: RF
authors.lastname: Casper
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D000568:Amenorrhea / Q000235:genetics* / Q000503:physiopathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects*; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010048:Ovarian Cysts / Q000235:genetics / Q000503:physiopathology; D010060:Ovulation / Q000187:drug effects / Q000235:genetics*; D010062:Ovulation Induction / Q000009:adverse effects; D010641:Phenotype; D011247:Pregnancy; D011974:Receptors, LH / Q000235:genetics*; D017211:Treatment Failure
chemical_list: D011974:Receptors, LH