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. Copyright © 2011 American Society for Reproductive Medicine, Published by Elsevier Inc.
CITATION STYLE
Yariz, K. O., Walsh, T., Uzak, A., Spiliopoulos, M., Duman, D., Onalan, G., … Tekin, M. (2011). Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome. Fertility and Sterility, 96(2). https://doi.org/10.1016/j.fertnstert.2011.05.057
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