ArticleFertility and sterility2011
Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.
Article in Fertility and sterility, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
25 citing papers in PubMed, 96 citations in OpenAlex.
- Review
- Successful Live Birth Outcome in A Patient with Empty Follicle Syndrome: A Case Report and Literature Review.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- Advances in the genetic etiology of female infertility.Journal of assisted reproduction and genetics · 2024Review
- Mitochondrial Dynamics as Potential Modulators of Hormonal Therapy Effectiveness in Males.Biology · 2023Review
- A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.Clinical genetics · 2022Article
- Hinge region mediates signal transmission of luteinizing hormone and chorionic gonadotropin receptor.Computational and structural biotechnology journal · 2022Article
- A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.Journal of assisted reproduction and genetics · 2021Article
- Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.Frontiers in endocrinology · 2021Article
- Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome.Journal of assisted reproduction and genetics · 2020Article
- Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida.Journal of assisted reproduction and genetics · 2020Article
- Glycoprotein G-protein Coupled Receptors in Disease: Luteinizing Hormone Receptors and Follicle Stimulating Hormone Receptors.Diseases (Basel, Switzerland) · 2020Review
- Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome.Journal of assisted reproduction and genetics · 2020Article
- Multiple association analysis of loci and candidate genes that regulate body size at three growth stages in Simmental beef cattle.BMC genetics · 2020Article
- Recurrent empty follicle syndrome with different stimulation protocols - A case report.Journal of family medicine and primary care · 2019Article
- Association of Rs13405728, Rs12478601, and Rs2479106 single nucleotide polymorphisms and in vitro fertilization and embryo transfer efficacy in patients with polycystic ovarian syndrome: A case control genome-wide association study.The Kaohsiung journal of medical sciences · 2019Article
- Novel Concepts for Inducing Final Oocyte Maturation in In Vitro Fertilization Treatment.Endocrine reviews · 2018Review
- A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.American journal of human genetics · 2017Article
- A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.Human reproduction (Oxford, England) · 2016Article
- Luteinizing hormone and human chorionic gonadotropin: distinguishing unique physiologic roles.Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology · 2014Review
- Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome during controlled ovarian hyperstimulation.Reproductive biology and endocrinology : RB&E · 2013Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
objectiveTo test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis.
designWhole-exome sequencing in the context of clinical genetics.
settingUniversity 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.