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

Oleh:

Bentov, Yaakov ; Kenigsberg, Shlomit ; Casper, Robert F.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 97 no. 05 (May 2012), page 1165-1168.
Topik: LHCGR mutation; amenorrhea; recurrent cyst formation; poor oocyte yield in IVF; recurrent early pregnancy loss

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2012.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

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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