Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome

Kemal O. Yariz, Tom Walsh, Asli Uzak, Michail Spiliopoulos, Duygu Duman, Gogsen Onalan, Mary Claire King, Mustafa Tekin

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

Objective: To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis. Design: Whole-exome sequencing in the context of clinical genetics. Setting: University hospital. Patient(s): Two women (36 and 32 years old at the time of the study) with EFS. Intervention(s): Genetic counseling based on autosomal recessive inheritance. Main Outcome Measure(s): Discovery of a mutation in the LH/choriogonadotropin receptor (LHCGR) as the cause of EFS. Result(s): A novel missense mutation in LHCGR, p.N400S, was homozygous in sisters with EFS and/or infertility, but not in their unaffected siblings or parents. The mutation was not present in 500 ancestry-matched control subjects. Asparagine at residue 400 is highly conserved and its substitution by serine predicted to alter critical interactions that stabilize LHCGR. Conclusion(s): We describe a genetic basis for EFS and provide strong evidence for the existence of genuine EFS in some patients. A mutation impairing the function of LHCGR explains the lack of response of these patients to repeated administration of β-hCG.

Original languageEnglish (US)
Pages (from-to)e125-e130
JournalFertility and sterility
Volume96
Issue number2
DOIs
StatePublished - Aug 2011

Keywords

  • Empty follicle syndrome
  • infertility
  • luteinizing hormone/choriogonadotropin receptor
  • next-generation sequencing

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Reproductive Medicine

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