ArticleJournal of assisted reproduction and genetics2021
Utilization of in vitro maturation in cases with a FSH receptor mutation.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Gonadotropin-resistant ovary syndrome in a hypergonadotropic patient withJCEM case reports · 2026Article
- Infertility management in resistant ovary syndrome: a review.Frontiers in endocrinology · 2025Review
- Identification and characterization of novel compound heterozygous variants inFrontiers in endocrinology · 2022Article
- Live birth after in vitro maturation in women with gonadotropin resistance ovary syndrome: report of two cases.Journal of assisted reproduction and genetics · 2021Article
- The Mare: A Pertinent Model for Human Assisted Reproductive Technologies?Animals : an open access journal from MDPI · 2021Review
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the FSH receptor (FSHR) variant and efficacy of in vitro maturation (IVM) in a 28-year-old woman with secondary amenorrhea, primary infertility, and ovarian resistance to FSH, and to analyze the genotype-to-phenotype relationship in cases of FSHR mutation for the development of an IVM algorithm for use in patients with gonadotropin resistance syndrome (GRS).
methodsOocytes retrieved after menstruation induction with norethisterone, followed by daily estrogen and an ovulatory trigger, underwent IVM, ICSI, and culture in a time-lapse (TL) incubator. Embryo transfers were performed on day 2, and after thawing on day 5. Genes associated with disorders of sex development were sequenced for both the patient and her parents. All reported cases of FSHR mutation were analyzed to investigate genotype/phenotypic relationships.
resultsAfter ovum pickup, seven of 16 oocytes matured and all fertilized. After unsuccessful day 2 transfer, our patient delivered with a thawed day 5 blastocyst, the sole embryo without abnormal TL phenotypes. Genetic analysis revealed a new composite heterozygous FSHR variant. Analysis of our patient case with published cases of GRS revealed associations among FSHR variant genotype, location on the FSHR, functionality of tested variants, and type of amenorrhea. An algorithm for application of IVM for GRS patients was developed.
conclusionsWe report two novel variants of the FSHR. Although IVM successfully matured some oocytes, only one resulted in an embryo with normal TL phenotypes. We recommend FSHR genetic testing in GRS patients, which will help guide their suitability for IVM.
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